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PubMedDate not supplied

Outcomes of surgical (pars plicata and limbal lensectomy, vitrectomy) and non-surgical management of persistent fetal vasculature (PFV): an analysis of 54 eyes.

PURPOSE: To identify clinical characteristics associated with outcomes of treatment for persistent fetal vasculature (PFV based on a modified classification. METHODS: In this noncomparative case series, 54 eyes of 47 consecutive patients with PFV managed from 1981 until 1998 at a tertiary eye hospital were reviewed. Pars plicata lensectomy and vitrectomy was performed in 34 eyes and translimbal lensectomy and vitrectomy in five. Fifteen eyes were managed non-surgically. The following outcomes were measured: 1) "Visual improvement", defined as at least one Zipf's category improvement of best corrected final vision as compared with initial visual acuity, provided that final vision of CSUM (central, steady, unmaintained) equal to 20/100-20/30 was obtained. 2) "Cosmetic acceptability", defined as the absence of the following: small orbit, externally small appearing eye with microcornea and hypotony, eye deviation more than 35 prism diopters without strabismus surgery and corneal opacity. RESULTS: Six eyes were inoperable. In 10 out of 33 operated eyes (30.3%) improvement of vision was obtained including four eyes with an anterior form and six eyes with a combined form of PFV. In univariate analysis, factors such as anterior form of PFV surgery in the combined form and having a normal retina, had a weak association with a higher chance of visual improvement. In multivariate regression analysis the likelihood of unacceptable cosmetic appearance was higher in females than males (OR = 10.5), and in bilateral cases (OR = 7.9). Offspring of consanguineous marriages had more severe forms of PFV. CONCLUSIONS: Although visual potential is limited in PFV some eyes with an anterior or combined form and normal retina achieved improvement of visual acuity after surgery. However, statistically no single factor except sex and bilateral PFV (for cosmetic unacceptability) reliably predicted the results of treatment. Therapy should be individualized based on clinical findings. Genetic studies in offspring of consanguineous marriages with PFV may prove informative.

Child, Preschool↗
PubMed2004

HLA DR phenotypic frequencies and genetic risk of Type 1 diabetes in west region of Algeria, Tlemcen.

BACKGROUND: The main genomic region controlling the predisposition to type 1 diabetes is the Human Leukocyte Antigens (HLA) class II of the major histocompatibility complex. Association with different HLA types depends also on the studied populations. In our investigation, we tried to measure the phenotypic HLA class II association frequencies of DR3 and/or DR4 antigens, using a serologic method called microlymphocytotoxicity analysis, in diabetic and nondiabetic (ND) subjects originating from the west-Algerian region of Tlemcen. The aim of the present study was to determine which HLA DR antigens represent a high susceptibility to develop the disease in this area. Using a case-control retrospective study design, we randomly recruited ninety-one related subjects, 39 type 1 diabetics and 52 ND as controls, at the Internal Medicine Board of Medical Centre University of Tlemcen. RESULTS: DR3 antigen frequencies were comparable between the type 1 diabetics and the ND subjects and showed no association with the disease (p = 1.000, OR = 0.95), whereas DR4 and DR3DR4 antigens were associated with susceptibility to develop type 1 diabetes (DR4; OR = 2.10, DR3DR4; OR = 1.30). Also, no incidence for DR3 (p = 0.2646) or DR3DR4 (p = 0.0699) antigen frequencies was related to the sex ratio. However, significant differences in HLA DR4 frequencies between type 1 diabetics and ND were found to be related to sex (p = 0.0085). CONCLUSION: Taken together, our investigation showed that the strongest association with type 1 diabetes was noticed in the presence of HLA DR4 antigens followed by DR3DR4 antigens. This study highlighted a characteristic of Tlemcen population; a history of consanguineous marriages. Association studies between the disease and genetic polymorphisms should be undertaken in a population where consanguinity is more limited to reduce confounding in result interpretations.

Adolescent↗
PubMed2001

Congenital hyperreninemic hypoaldosteronism unlinked to the aldosterone synthase (CYP11B2) gene.

Isolated hyperreninemic hypoaldosteronism presenting in infancy is usually caused by mutations in the CYP11B2 gene encoding aldosterone synthase. We studied five patients in four unrelated kindreds with hyperreninemic hypoaldosteronism, in whom we were unable to find such mutations. All presented in infancy with failure to thrive, hyponatremia, hyperkalemia, markedly elevated plasma renin activity, and low or inappropriately normal aldosterone levels. All had normal cortisol levels and no signs or symptoms of congenital adrenal hyperplasia. All responded to fludrocortisone treatment. There were no mutations detected in exons or splice junctions of CYP11B2. Linkage of the disorder to CYP11B2 was studied in two unrelated consanguineous patients and in an affected sib pair. The consanguineous patients were each heterozygous for at least one of three polymorphic microsatellite markers near CYP11B2, excluding linkage to CYP11B2. However, linkage of the disease to CYP11B2 could not be excluded in the affected sib pair. Genes involved in the regulation of aldosterone biosynthesis, including those encoding angiotensinogen, angiotensin-converting enzyme, and the AT1 angiotensin II receptor were similarly excluded from linkage. These results demonstrate the existence of an inherited form of hyperreninemic hypoaldosteronism distinct from aldosterone synthase deficiency. The affected gene(s) remain to be determined.

Adult↗
PubMed2000

Molecular changes in the D-bifunctional protein cDNA sequence in Australasian patients belonging to the bifunctional protein complementation group.

The cDNA sequence for the human D-bifunctional protein (D-BP: 17 beta-hydroxysteroid dehydrogenase IV) was investigated in patients with peroxisomal disorders belonging to the BP complementation group (CG). In three cases, analysis of polymerase chain reaction products generated from the patients' cDNA indicated the presence of a deletion within the region corresponding to nucleotides 209-537 of the normal cDNA sequence. Subsequent sequencing revealed that, in two of the patients, 47 base pairs were missing, with the deletion corresponding to nucleotides 302/3-349/50 of the normal sequence. In the third patient, a smaller deletion of 22 bp (nucleotides 280/1-302/3) was characterized. Only the mutant sequence was detected in each of these cases, consistent with parental consanguinity. Both deletions cause a frameshift, and would lead to premature termination of the BP. Available family members were also investigated, and the findings conformed with expectations for an autosomal recessive disorder. In addition to the deletions, a number of other base changes have been identified in this series of patients. In particular, one patient, whose parents were also consanguineous, was homozygous for a base change, which results in a nonconservative substitution of serine 177 with a phenylalanine residue. The functional significance of this amino acid substitution, as well as the other identified changes, is still to be determined. Nevertheless, our data provide strong support for the hypothesis that defects in the gene for the D-BP are responsible for the beta-oxidation defect in patients belonging to the BP CG.

17-Hydroxysteroid Dehydrogenases↗
PubMed2004

Susceptibility to leprosy may be conditioned by an interaction between the NRAMP1 promoter polymorphisms and the lepromin response.

Controversial results have been achieved by attempting to associate the NRAMP1 gene with Mycobacterium leprae susceptibility as well as with the Mitsuda reaction, which represents a specific immune response to M. leprae. This study evaluated this association as well as the interaction of the polymorphism (GT)(n) in the promoter region of the NRAMP1 gene with a specific immune response to M. leprae measured by the intradermal Mitsuda test in leprosy patients and in non-consanguineous household contacts. The study aimed to evaluate the association of this gene polymorphism with resistance or susceptibility to the disease, and/or with clinical forms of the disease, in a population in an endemic area served by the State Reference Center in Sanitary Dermatology and Leprosy, Federal University of Uberlandia, MG, Brazil. Leprosy patients (90) were diagnosed according to Ridley and Jopling criteria and they grouped into multibacillary (MB) and paucibacillary (PB) patients. The control group consisted of 61 non-consanguineous contacts. NRAMP1 promoter genotypes were obtained through amplification by the polymerase chain reaction (PCR) followed by the detection through the low ionic-strength single strand conformational polymorphism (LIS-SSCP) electrophoretic technique. There were no significant differences in the allelic and genotypic frequencies for alleles 2, 3, and 4 in relation to the Mitsuda test among patients and household contacts, nor between those with MB and PB forms. However, individuals with a negative lepromin response associated with genotypes 22 and 23 presented a 7- and 8-fold greater chance of developing leprosy, respectively. Therefore, the NRAMP1 gene promoter polymorphism exhibited an interaction with the lepromin response, suggesting that allele 2 of the NRAMP1 promoter is an independent genetic factor that predisposes cells to enable pathogen survival, probably due to its low efficiency in iron transport. However, establishment of the infection and disease development may be conditioned by other immunological and genetic factors.

Alleles↗
PubMed2004

Two cases of Allgrove syndrome with mutations in the AAAS gene.

Allgrove syndrome is a rare autosomal recessive disorder characterized by the triad of adrenal insufficiency, achalasia and alacrima. This syndrome, also known as triple A syndrome, is now known to be caused by mutations in the AAAS gene. In the present study, we report two new patients of Allgrove syndrome with mutations in the AAAS gene. Patient 1 was a 22-year-old Japanese woman, born to consanguineous parents. She was confirmed to have adrenal insufficiency at the age of 3 years and 6 months. She developed alacrima and bilateral optic nerve atrophy at the age of 8 years. She had been noticed to have dysphagia. Based on these findings, she was diagnosed as having Allgrove syndrome. Mutation analysis revealed a novel homozygous point mutation in exon 7 of her AAAS gene, changing codon 194 encoding Arg (CGA) to a stop codon (TGA) (R194X). Patient 2 was a 7-year-old Japanese boy, born to consanguineous parents. At the age of 1 year, he was noticed to be unable to produce tears. He was confirmed to have adrenal insufficiency, mental retardation and spastic diplegia at the age of 5 years and 4 months. He was tentatively diagnosed as having Allgrove syndrome, although he has never complained of dysphasia. Mutation analysis revealed a homozygous point mutation in exon 4 of his AAAS gene, changing codon 119 encoding Arg (CGA) to a stop codon (TGA) (R119X). Both of the R119X and R194X mutations are predicted to result in truncated and non-functioning ALADIN proteins, and thus the diagnosis of Allgrove syndrome was confirmed by the mutation analyses. These findings indicate that there exist significant clinical variability and mutational heterogeneities in Japanese patients with this syndrome.

Adrenal Insufficiency↗
PubMed2005

Growth hormone releasing hormone receptor (GHRH-r) gene mutation in Indian children with familial isolated growth hormone deficiency: a study from western India.

BACKGROUND: Various mutations of the growth hormone releasing hormone receptor (GHRH-R) gene have been recently described to cause familial isolated growth hormone (GH) deficiency (FIGHD), with the GHRH-R nonsense mutation E72X reported in patients with FIGHD from South Asia. The molecular genetic basis of FIGHD in Indian children is not known. OBJECTIVE: To look for the GHRH-R E72X non-sense mutation in our patients with FIGHD and describe its clinical phenotype. PATIENTS AND METHOD: A total of 31 patients from 22 families diagnosed 4-20 years previously, 20 patients with familial IGHD-IB from 11 families and 11 patients with non-familial isolated GH deficiency (NFIGHD) (phenotypes IGHD-IB in eight patients and -IA in three) were included. Twenty-eight of 31 patients with IGHD-IB came from two states of Western India, 27 of them Hindus from 18 families (three consanguineous) and one from an inbred Moslem kindred. RESULTS: Twenty-two of the patients (71%) (18 FIGHD and four NFIGHD) had a homozygous G-->T transversion in exon 3, with this GHRH-R gene mutation E72X in 90% (18/20) of patients with FIGHD, 36% (4/11) of NFIGHD, altogether 78% (22/28) with phenotype IB. One parent pair with IGHD had homozygous E72X mutation, the rest were heterozygous carriers. Two siblings with IGHD due to homozygous E72X mutation were also heterozygous carriers for GH-1 gene 6.7 kb deletion, inherited from their mother, heterozygous for both GH-1 and GHRH-R mutations. Initial chronological age was 10.89 +/- 3.69 years, bone age 6.4 +/- 3.4 years, and mean height SDS was -5.83 +/- 1.41. The clinical phenotype, with sharp features, lean habitus, lack of frontal bossing or hypoglycemia, was characteristic. The mean peak GH was 1.25 +/- 0.75 ng/ml, IGF-I and IGFBP-3 below -2 SDS with no response to GHRH in those tested. MRI (n = 10) showed pituitary hypoplasia, mean vertical height 2.61 +/- 0.76 mm. Among the other 7/11 NFIGHD patients, four with phenotype IB were negative for genotypes tested in this study; of three patients with phenotype IA, two had the GH-1 gene 6.7 kb deletion, and one was a compound heterozygote with 6.7 and 7.6 kb deletions. CONCLUSIONS: The majority of patients with FIGHD from different communities belonged to non-consanguineous Hindu families from Western India. The GHRH-R gene E72X mutation was found in 71% of this series, in 90% of FIGHD, 36% of NFIGHD, and in 78% with phenotype IB. The characteristic phenotype helped in suspecting this mutation. GHRH-R gene mutations may be the most reasonable candidate for IGHD-IB with the E72X mutation predominating in the Indian subcontinent. More extensive studies need to be undertaken.

Adolescent↗
PubMed1997

Lack of deafness in Crigler-Najjar syndrome type 1: a patient survey.

We performed a questionnaire survey about 42 patients with Crigler-Najjar syndrome type 1 who were currently alive. Information was obtained on their age, sex, birth weight, gestation, parental consanguinity, other family members affected, age of onset of jaundice, neonatal and postneonatal bilirubin values, neonatal and postneonatal therapy, problems faced with phototherapy, liver transplantation, current growth status, current neurologic status, and the status of hearing. Patients were between 2 months and 21 years of age. There were 18 males and 24 females. Thirty-nine patients had been born at full term gestation and 3 had been preterm. Jaundice was noted on postnatal day 1 in 34%, between days 2 and 4 in 55%, and after day 11 of life in 11% of patients. In the neonatal period bilirubin values (mean +/- SD) were typically 19.8 +/- 4.5 mg/dL. Eighty-six percent of patients had neonatal peak bilirubin values of >20 mg/dL. Parental consanguinity was present in 44% and a history of Gilbert's disease in one parent was present in 10% of patients. Causes of exacerbations of jaundice reported were respiratory infections, febrile illnesses, vaccinations, fasting, surgery, emotional stress, and noncompliance with treatment. Neonatal therapy consisted of exchange transfusion in 28%, phototherapy in 79%, phenobarbitone in 20%, and cholestyramine, albumin, infusions, and plasmapheresis in one case each. The mainstay of postneonatal therapy was home phototherapy for 10 to 16 hours, primarily at night during sleep, using blue lights or a combination of blue and fluorescent lights. Some patients used innovatively designed phototherapy units. Problems reported with phototherapy were decreased effectiveness with age, poor compliance, restriction of activity and play, inability to travel or take vacations, irritation from eye shades, difficulty keeping eye protection on, difficulties in temperature maintenance, tanning of the skin, embarrassment from the need to be nearly nude during phototherapy, and difficulty in procuring phototherapy lamps. Other therapies that had been tried included oral agar, albumin infusions, antioxidants, acupuncture, bilirubin oxidase, calcium infusions, clofibrate, cruciferous vegetables, cholestyramine, chlorpromazine, flumecinol, plasmapheresis, tin mesoporphyrin, ursodeoxycholic acid, and urinary alkalinization. Fifteen children had undergone liver transplantation (5 auxiliary and 10 orthotopic). All 42 patients are reportedly of normal height and weight. Neurodevelopmental status is said to be normal in 77% of patients. Two patients have kernicterus, 4 have cerebellar symptoms, and 1 each has developmental delay, mild intention tremor, and mild speech delay. Hearing was reported to be normal in 94% of patients. The 2 children with hearing loss have conductive loss from otitis media. With home phototherapy prolonged, survival free of neurologic deficits is possible in Crigler-Najjar syndrome type 1, but there are many problems associated with phototherapy. Avoiding exacerbations of jaundice is an important aspect of management. Liver transplantation offers the prospect of cure but its risk versus benefit ratio is undetermined. Hearing loss was absent in the patients surveyed despite prolonged exposure to high bilirubin levels, which suggests that bilirubin may not be as ototoxic as is commonly believed.

Adolescent↗
PubMed1995

Genetic analysis of a family of lactate dehydrogenase A subunit deficiency.

Lactate dehydrogenase A subunit (LDH-A) deficiency is an inherited metabolic myopathy of glycolysis. The severity of this disease varies from case to case. We reported non-consanguineous male sibling cases who had severe muscle pain and rhabdomyolysis during anaerobic exercise. Genetic analysis revealed 20 base pair deletion of the sixth exon of the LDH-A gene. There was no difference in the gene abnormality between our patients and previously reported female cases who had history of consanguinity and lower degree of symptoms. The differences in disease severity were not due to genomic abnormality in our two families.

Adult↗
PubMedDate not supplied

[Persistent hyperinsulinemic hypoglycemia of infancy: case report]

OBJECTIVE: To report a case of Persistent Hyperinsulinemic Hypoglycemia in twins which is a situation not yet reported in the literature. METHODS: Report of seizures in identical twins, from consanguineous parents, with persistent hypoglycemia as cause of the seizures. Laboratory tests, performed for etiological investigation of the hypoglycemia, included thyroid hormones (T4/TSH), insulin, cortisol, growth hormone, stimulation test with glucagon (to evaluate the insulin/glucose relation), and histopathological study of the pancreas. RESULTS: Laboratorial investigation revealed a persistent hypoglycemia with hyperinsulinism which were confirmed with the stimulation test with glucagon. The histopathological exam showed a persistence of first generation pancreatic islet, confirming the diagnosis of Persistent Hyperinsulinemic Hypoglycemia in Infancy (the new denomination of Nesidioblastosis). CONCLUSION: Although rare, this condition must be early suspected early in the evaluation of hypoglycemia of the young infant, even out of the neonatal period, specially if the parents are consanguineous. The adequate therapy must be quickly initiated in order to prevent neurological damage.

Journal Article↗
PubMed1998

High prevalence of diabetes in Bahrainis. Associations with ethnicity and raised plasma cholesterol.

OBJECTIVE: To determine prevalence of diabetes and associated risk factors in the population of Bahrain. RESEARCH DESIGN AND METHODS: A cross-sectional study of 2,128 Bahrainis aged 40-69 years was conducted. RESULTS: Age-standardized prevalence of diabetes was 25% in Jaafari Arabs, 48% in Sunni Arabs, and 23% in Iranians. In multivariate analyses, positive family history of diabetes, low educational status, waist girth, plasma cholesterol, and, in women, postmenopausal status were independently associated with diabetes. Adjusting for these factors did not account for the difference in prevalence between Jaafari and Sunni Arabs. There was no association between diabetes and parental consanguinity. Mean plasma cholesterol was 0.5 mmol/l higher in diabetic than in normoglycemic participants, 0.5 mmol/l higher in Sunni than in Jaafari Arabs, and, excluding diabetic individuals, 0.2 mmol/l higher in those with a positive family history of diabetes than in those with a negative family history. Although 28% of participants had BMI > or = 30 kg/m2, only 42% of these obese individuals rated themselves as overweight. In men, obesity was inversely related to physical activity at work. In women, obesity was associated with high parity and inversely associated with employment outside the home. CONCLUSIONS: The high rates of diabetes in Bahrain and other Arabian Peninsula populations appear to be part of a familial syndrome that includes raised plasma cholesterol levels. Risk is related to ethnic origin but not to parental consanguinity. Despite the high rates of diabetes, obesity is still perceived as a desirable attribute in this population.

Adult↗
PubMedDate not supplied

Sutural cataract, retinitis pigmentosa, microcephaly and psychomotor retardation. A new autosomal recessive disorder?

We report four children (three sibs and one sporadic case) with congenital sutural cataract (opacity of the sutures of the crystalline lens), retinitis pigmentosa (leading to diminished visual acuity), microcephaly, and moderate to severe psychomotor retardation. The three sibs (two F and one M) were born to healthy, consanguineous Moroccan parents; the sporadic case is an 11-year-old Dutch girl who presented at the age of nine months with a small head circumference (third percentile) and sutural cataract. Psychomotor development was retarded in all cases, retinitis pigmentosa became evident during middle or late childhood. Congenital cataract has been described in association with a large number of various congenital abnormalities, such as renal, nervous system, skeletal, dermal and ocular (including retinal) defects. A computer-assisted literature search has not revealed similar cases to those presented here. The cases described here appear to have a previously undescribed combination of ophthalmological and cerebral abnormalities. The inheritance of the condition appears to be autosomal recessive as a brother and two sisters (offspring of normal consanguineous parents) are affected. The differential diagnosis is discussed.

Cataract↗
PubMed1977

Familial intracranial aneurysms and cerebral vascular anomalies.

The author reports a family in which four members had intracranial aneurysms and one additional member was suspect. One member had multiple aneurysms that were successfully treated surgically. Elective angiography on five asymptomatic members of the family disclosed asymptomatic aneurysms in two. In addition, cerebrovascular anomalies were found in many of the family members. The parents of the family were consanguineous. High incidence of these associated anomalies and consanguinity in the parents tend to suggest the hereditary basis of the disease. Banding analysis of chromosomes in three siblings with aneurysms and three siblings without aneurysms was carried out. Elective investigation of the asymptomatic members should be considered where there are already two or more affected in a family. The indications for surgical prophylaxis on asymptomatic aneurysms in other members of the family are discussed.

Adult↗
PubMedDate not supplied

[Congenital urological anomalies: epidemiological description and associated risk factors in Colombia 2001-2004].

OBJECTIVE: To determine the incidence of congenital anomalies of the urinary tract in Colombia and study their association with maternal risk factors. METHODS: We performed a register based, case control study using the data from the ECLAMC (Colaborative latinoamerican Study for Congenital Malformations) in Colombia, between June, 2001 and December, 2004. Positive Registries for any urological anomaly were selected. Calculations for the incidence of each abnormality were done. Odds ratio were estimated for 11 maternal variables. RESULTS: 83 positive registries were found. The established incidence was 0.43%. These anomalies accounted for 9.4% of the total of malformations. The obtained rate (x 10,000 births) for each anomaly was: hypospadias 17.7; chryptorchidism 13.3; hydronephrosis 2.6; cystic renal disease 2.6; undeterminate sex 2.6; unilateral renal agenesis 1.3; micropenis 1.9; bilateral renal agenesis 0.7; patent urachus 0.3. The risk for renal defects increased with preterm birth, odds ratio OR= 3.66; 95% IC [1.13 - 13.82] and maternal chronic disease OR = 6, 18; 95% CI [1.09 - 34.98]. A deterministic association was found with consanguinity between the parents. The positive associations for genital defects were: low birth weight OR = 4.07; 95% CI [2.00 - 8.25], preterm birth OR= 3.80; 95% CI [1.87 - 7.72], presence of malformated individuals in the family OR = 2.30; 95% CI [1.02 - 5.25], and smoking during pregnancy OR = 5.36; CI [1.01 - 28.51]. A deterministic association was found with alcohol ingestion during pregnancy. CONCLUSIONS: The prevalence of anomalies of the urinary tract in Colombia is considerably lower in comparison with European and North American statistics. The birth weight is the most important risk factor for anomalies like hypospadias and chriptorchidism. Consanguinity between the parents and alcohol ingestion during the pregnancy are determinant on the risk for renal and genital anomalies, respectively. Variables like smoking during pregnancy and chronic maternal disease must be deeply explored in the future to determine their role in the etiology of these defects.

Colombia↗
PubMed1998

[Genetic demographic study of Zulia State, Venezuela, by isonymy].

The genetic structure of Zulia State, Venezuela, was studied through the distribution of surnames from individuals above 40 years of age, obtained from the register of electors. The sample studied consisted in 440, 190 individuals and 10,423 different surnames. For each of the 81 counties of the State, the following estimators were calculated: percentage of the population included in surnames which appear only once (estimator A), percentage of the population included in the seven most frequent surnames (estimator B), the coefficient of consanguinity due to random isonymy phi ii, and Karlin and McGregort's ni (v), an estimator of migration. The correlation between phi ii and B was 0.92, indicating that 85% of the variation observed in the coefficient of consanguinity due to random isonymy is due to the seven most frequent surnames. The correlation between A and ni was 0.93, so that 86% of the variation observed in ni, is due to surnames which appear only once. On the other hand, correlations between A and B, and between phi ii and v were non significant (-0.08 and -0.17 respectively), meaning that they are measuring different features of population structure: B and phi ii, isolation, while A and v, migration. The most isolated counties of Zulia are localized towards the northwestern portion of the State, within the Venezuelan Guajira, although relative isolation is also observed in the southern counties. Isolation by distance is estimated through the correlation between the logarithmic transformations of Euclidean and geographic distances, giving a value of 0.63. This high value might be partially due to the barrier effect of the Lake of Maracaibo. Eight surnames with a focal distribution within Zulia were identified: Almarza, Badell, Bastidas, Bohórquez, Cardozo, Carmona, Espina and Matos. Carriers of these surnames have a high probability of having their origin at the counties where they are localized.

Adult↗
PubMed1999

Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities.

We report on a child with bifid femur, absent tibiae, hypoplastic hallux, bilateral club feet, congenital heart defects, and segmentation anomalies of the spine and ribs. Parents are consanguineous, from a region where other consanguineous families with similarly affected individuals have been reported. Clinical and genetic controversies of the tibial aplasia-ectrodactyly syndrome/Gollop-Wolfgang complex are discussed.

Femur↗
PubMed1999

Genetic monitoring of the human population from high-level natural radiation areas of Kerala on the southwest coast of India. I. Prevalence of congenital malformations in newborns.

In the densely populated monazite-bearing sands of Kerala, on the southwest coast of India, natural radiation dose rates range from 1. 0 to over 35.0 mGy per year in certain well-defined high-level natural radiation areas. As a part of the program to assess the health effects of this naturally occurring high-level natural radiation on human populations, monitoring of newborns is being undertaken to determine the incidence of congenital malformations. From August 1995 to December 1998, a total of 36,805 newborns were screened, including 212 (0.58%) stillbirths. There were 36,263 singletons, 536 (1.45%) twins, and 6 born as triplets. The overall incidence of malformations was 1.46% and was dependent on maternal age. The stillborns exhibited a very high malformation rate of 20.75% compared to 1.35% among the live births. Likewise, twins also had a higher malformation rate (2.99%) compared to singletons (1.44%). About 3.5% of the newborns originated from consanguineous marriages. Consanguinity also led to a relatively higher rate of malformations (1.97%) as well as of stillbirths (1.18%). About 92% of the deliveries took place by the maternal age of 29 years and only 1.2% among women above 34 years old. The stratification of newborns with malformations, stillbirths or twinning showed no correlation with the natural radiation levels in the different areas. Thus no significant differences were observed in any of the reproductive parameters between the two population groups based on the monitoring of 26,151 newborns from high-level natural radiation and 10,654 from normal-level natural radiation (dose rate </=1.5 mGy/year) areas of the Kerala coast.

Abnormalities, Radiation-Induced↗
PubMed1975

An ophthalmic genetics clinic.

The results are presented from the first year of our clinic in Edinburgh. These were included in the setting up of a computerized Register of Ascertainment and Prevention of Inherited Disease ('RAPID') in the Department of Human Genetics. A total of 45 relatives who had greater than 10% risk were ascertained from fifteen families with hereditary diseases; 24 relatives had 10% risk of retinitis pigmentosa. The pupils at the Royal Blind School, Edinburgh, were surveyed and it was found that 40% of the 100 pupils had definitely inherited severe eye disease. Only 31% , had definitely non-genetic disease, for which reassuring counseling can be given. In 29% we could not be sure. From those with hereditary disease we ascertained 51 relatives at greater than 10% risk. Any patient with a fairly symmetrical 'quiet' eye disease, especially if congenital, should be suspected of having an hereditary disease--presumably due to a recessive gene, even if the parents are not consanguineous, but possibly due to a mutation which could prove dominant; a search of the literature in such cases is useful. Although patients with a 'recessive' disease can be reassured that the (extra) risk to their children is small, it is worth warning them that in their families a consanguineous marriage is more liable than usual to produce affected children. A case of oculo-pharyngeal muscular dystrophy was seen and two cases of Leber's congenital amaurosis: the commonest diagnosis was retinitis pigmentosa, and there were several cases of Marfan's syndrome. The Royal Blind School takes both boys and girls and one couple have recently married, the male with X-linked retinitis pigmentosa and the female with dominantly inherited retinoblastoma.

Adolescent↗