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Biomedical subjects

M Shohat

Publications and source records attributed to M Shohat.

At least 145 records · Page 8Linked to original sources
PubMed1990

Familial Mediterranean fever--linkage studies with genetic markers on chromosome 6.

Familial Mediterranean Fever (FMF) is an autosomal recessive disease manifested by recurrent short episodes of fever associated with polyserositis. Although the biochemical defect is unknown, there are several immunologic abnormalities which have been described in this disease. To examine critically whether there is linkage between FMF and the immunogenetic region (major histocompatibility complex-MHC) on chromosome 6, including the HLA, BF, and GLO1 loci, blood samples from members of 13 nuclear Armenian families were tested for these genetic markers. These 13 families included 28 affected and 42 unaffected family members. Linkage could be excluded at 7.5% recombination with the HLA ABC and D loci. Linkage could be excluded at 2.5% recombination for GLO1. Linkage could not be excluded with BF individually, but can be rejected based on the haplotype data. No association was found with either BF, GLO1, and HLA DQ alleles. HLA DR4 was found more often in affected cases than in controls; however, after adjusting for the number of antigens tested this was not significant. Our results would appear to exclude the immunogenetic region on chromosome 6 from linkage with FMF in the Armenian population.

Alleles↗
PubMed1989

Brachyolmia: radiographic and genetic evidence of heterogeneity.

Brachyolmia refers to a form of skeletal dysplasia characterized by general platyspondyly without significant epiphyseal, metaphyseal, or diaphyseal changes in the long bones. As a result of a study of 11 patients from 7 different families and a review of the literature we propose that there are 3 and possibly 4 different types of brachyolmia: 1. Hobaek type--an autosomal recessive condition with universal platyspondyly, irregular, and reduced intervertebral spaces and marked extension of the lateral margins of the vertebrae. Rectangular and elongated vertebral bodies are seen on lateral views of the spine, which become more pronounced with age. Toledo type--radiographically similar to Hobaek type but also associated with corneal opacities and precocious ossification of costal cartilage. It is uncertain as to whether this represents variability or heterogeneity. 2. Maroteaux type--an autosomal recessive disorder that is distinguished from Hobaek type by rounding of the anterior and posterior vertebral borders with less elongation on lateral view and less lateral extension on A.P. view. This type may be associated with precocious calcification of the falx cerebri, and minor facial anomalies. 3. Dominant type--a previously underscribed form which we have observed in a mother and her son. This type has the most severe vertebral changes with flattening and irregularities of the cervical spine. These clinical, radiological, and genetic differences suggest genetic heterogeneity in this group of platyspondylic disorders.

Abnormalities, Multiple↗
PubMed1989

Hypothesis: familial Mediterranean fever--a genetic disorder of the lipocortin family?

Familial Mediterranean fever is an autosomal recessively inherited disorder of unknown cause characterized by recurrent attacks of inflammation, involving mainly the peritoneum, pleura, synovia, and skin. Based on a phenotype analysis, we propose that its manifestations may be related to a genetic defect in one of the family of lipocortin proteins. Evidence is presented supporting an abnormality in the first step of prostaglandin/leukotriene synthesis.

Annexins↗
PubMed1989

Familial Mediterranean fever in Armenians: autosomal recessive inheritance with high gene frequency.

Familial Mediterranean fever (FMF) is a recurrent episodic inflammatory disorder of unknown pathogenesis that occurs with high frequency in non-Ashkenazi Jews and Armenians. However, there are some differences in the clinical manifestations of FMF in these ethnic groups. FMF has been reported to be an autosomal recessive disease in non-Ashkenazi Jews, with a male/female ratio of 1.7, indicating reduced penetrance in females. However, the inheritance is less clear for Armenians. To resolve this problem, we studied prospectively families of 64 Armenian index cases randomly ascertained at the UCLA FMF clinic. Fifty-three families containing 176 sibs in addition to the probands were analyzed by genetic segregation analysis (exclusions included: six single-child families, four families in which one of the parents was also affected, and a family with incomplete information). Upper and lower bounds of the segregation ratio were estimated, and ranged from .10 +/- .03 to .18 +/- .05 when only definitely affected sibs were classified as affected; .17 +/- .04 to .27 +/- .05 when considering "possibly affected" sibs as affected; and .19 +/- .04 to .30 +/- .05 when incomplete penetrance in females was corrected. A value of .25 is the expected segregation ratio for autosomal recessive inheritance, and our data are consistent with this mode of inheritance. We can reject autosomal dominant inheritance, where the expected segregation ratio is .5. Using extended pedigree data, we calculated an FMF gene frequency of 0.073 and a carrier rate of 1/7, which is about four times the frequency in non-Ashkenazi Jews.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1989

Recurrent ascites in an infant with perinatally acquired cytomegalovirus infection.

We describe an infant with symptomatic perinatally-acquired cytomegalovirus (CMV) infection manifested by fever, anaemia, thrombocytopenia and hepatosplenomegaly. This infant developed recurrent episodes of severe ascites during which the virus was isolated from his urine. This rare hepatic manifestation of neonatal CMV infection has, to the best of our knowledge, only been reported twice in aborted fetuses with intrauterine systemic CMV infection.

Ascites↗
PubMed1989

Odontoid hypoplasia with vertebral cervical subluxation and ventriculomegaly in metatropic dysplasia.

Our experience with 12 patients with metatropic dysplasia has demonstrated two important and treatable complications: odontoid hypoplasia with subluxation of the first and second cervical vertebrae, and ventriculomegaly. Hypoplasia and lack of ossification of the odontoid process were noted in all cases. Subluxation of these two vertebrae was demonstrated in all six patients who had lateral flexion-extension radiographs; three had subluxation even in a neutral position, and sudden odontoid dislocation developed in another after a simple fall. Four individuals have had surgical fusion of the cervical vertebrae; one child died suddenly, 1 week before scheduled surgery. In the three patients in whom computed tomography scans of the head were obtained, enlarged ventricles were found; one had symptomatic increased intracranial pressure and required a shunt. We recommend that odontoid hypoplasia be evaluated in all patients with metatropic dysplasia. If subluxation is proved, atlantoaxial fusion should be performed before damage to the cervical part of the spinal cord results. Serial head circumference measurements and evaluation for hydrocephalus are also recommended.

Adolescent↗
PubMed1989

Nutritional complications in an infant fed exclusively on homemade sesame seed emulsion.

A 3-month-old infant was exclusively fed a high calorie homemade sesame seed emulsion for 4 weeks. As a result of the milk content, the infant developed hypermagnesemia, hypokalemia, hyponatremia, and hypovitaminosis C. Although the mixture was highly caloric and the infant's intake was good, he showed profound failure to thrive. Analysis of the emulsion indicated that this complication was primarily due to the heterogeneity of the emulsion's caloric content resulting from a settling process which occurred after the emulsion was placed in the infant's bottle. This settling resulted in the portion containing the most calories being the last to reach the infant's mouth. These findings indicate that whenever a vegetarian diet is provided to a bottle-fed infant, the potential heterogeneity of the mixture's caloric content, as well as the contents themselves, should be considered.

Emulsions↗
PubMed1989

Transient tachypnoea of the newborn and asthma.

A total of 58 children aged 4-5 years who were diagnosed as having transient tachypnoea of the newborn were studied. In contrast with the control group (n = 58), the infants with transient tachypnoea of the newborn had a significantly higher incidence of recurrent (more than two) episodes of wheezy breathlessness, symptoms consistent with asthma, and signs consistent with atopy.

Asthma↗
PubMed1989

Hypertension in Israeli adolescents: prevalence according to weight, sex and parental origin.

We studied the prevalence of hypertension in 57,499 male and 35,803 female Israeli military recruits and its relation with sex, weight, and parents' ethnic origin. The overall prevalence of systolic hypertension (greater than 140 mmHg) was 1.75 per cent for males and 0.32 per cent for females. The prevalence of diastolic hypertension (greater than 90 mmHg) was 0.41 per cent for males and 0.06 per cent for females. For males, the prevalence of systolic and diastolic hypertension increased with weight, exponentially. Males of Ashkenazi origin had a significantly higher prevalence of hypertension (systolic 2.52 per cent, diastolic 0.55 per cent) compared with those of Sephardi origin (systolic 1.12 per cent, diastolic 0.3 per cent). The prevalence of adolescents with systolic or diastolic blood pressure greater than the mean +2SD of each weight group ranged between 1.5-2.3 per cent.

Adolescent↗
PubMed1989

Autosomal dominant transmission of isolated congenital vertical talus.

We report vertical transmission of isolated congenital vertical talus through three generations of a Honduran family. Five of nine affected family members were examined and the diagnosis was confirmed radiographically. There was incomplete penetrance in one clinically unaffected woman with two affected children. Bilateral and unilateral involvement was seen with a wide range of severity. Based on this family and on cases reviewed from the literature, we propose that isolated congenital vertical talus can be inherited as an autosomal dominant trait with variable expression and incomplete penetrance.

Child↗
PubMed1989

Experience and training as factors in physician performance in a pediatric emergency room.

The medical records of 463 children seen in a hospital emergency room were studied prospectively to examine the influence of physicians' experience on their performance in the emergency room. The diagnostic and therapeutic approach of three groups of physicians to the following problems were studied: fever lasting less than 24 h or 2-7 days, diarrhea and dyspnea. The results show that less experienced physicians (residents in their first week of practice in the emergency room) tended to request a significantly greater number of laboratory tests than the senior physicians, but tended to prescribe less medications, particularly those used for symptomatic treatment. Following 3 months' training in the emergency room, these residents generally exhibited a pattern of laboratory utilization similar to that of their respective seniors; however, the residents demonstrated a significantly increased propensity to diagnose more patients as having bacterial infections and to prescribe more antibiotics. In addition to the attention paid to young physicians' diagnostic utilization performance, their therapeutic pattern of practice should also be assessed.

Age Factors↗
PubMed1988

Achondroplasia with ankylosing spondylitis.

A 41-year-old-white man with achondroplasia has been followed intermittently since age 27. During this time, he has complained of neck and back pain with limited mobility in both. Other problems have included temporomandibular joint pain, dysuria without apparent urinary tract infection iritis, anemia, and an elevated gamma globulin fraction. Recently he returned to the clinic complaining of rigidity of the entire spine. Radiographs showed complete fusion of the sacroiliac joints and fusion of the cervical vertebral bodies and apophyseal joints, consistent with ankylosing spondylitis. He was found to be HLA B-27 positive. This case illustrates the importance of considering other diseases whenever atypical orthopedic problems arise in patients with a bone dysplasia.

Achondroplasia↗
PubMed1988

CSF glucose levels in febrile infants.

Simultaneous blood and CSF glucose levels were investigated in 143 febrile children without cerebromeningeal illness, who were evaluated due to fever in the first 2 months of life or febrile convulsions. There was a significant decrease (P less than 0.001) in the mean CSF-blood glucose ratio from 0.67 +/- 0.13 in the first 2 weeks of life to 0.56 +/- 0.11, 0.57 +/- 0.8 and 0.58 +/- 0.11 at the ages 2-4, 5-6 and 6-8 weeks, respectively. The mean CSF and blood glucose levels did not change significantly in this period. After the 2nd month of life there was a significant rise P less than 0.01 in the mean CSF-blood glucose ratio to 0.72 +/- 0.11, the customary normal value in children. This was associated with a significant rise in CSF glucose levels as compared to the first 8 weeks as a whole. Our study suggests age-related changes in CSF blood-glucose ratios during the first weeks of life which are important when evaluating infants for the possibility of meningitis.

Blood Glucose↗
PubMed1988

Determination of blood gases in children with extreme leukocytosis.

The effect of extreme leukocytosis (greater than 300,000/mm3) on the PaO2 of blood stored at 22 degrees and 2 degrees C was studied in two children with leukemia. Arterial blood samples drawn from these patients at 1 and 10 min were compared to blood samples drawn from eight control patients with normal leukocyte counts and PaO2 levels in the same range. One minute after drawing the samples, the PaO2 values at 2 degrees C were significantly higher than those stored at 22 degrees C. Later, there was a rapid and progressive decline in PaO2 values in both samples stored at 2 degrees and 22 degrees C. Rapid consumption of O2 by leukocytes is liable to result in erroneous diagnosis of severe hypoxemia in patients with extreme leukocytosis. Immediate cooling of the samples is insufficient to eliminate this process.

Blood Gas Analysis↗
PubMed1988

Infectious episodes following diphtheria-pertussis-tetanus vaccination. A preliminary observation in infants.

Eighty two infants, aged 2-12 months, were prospectively studied for infectious episodes following diphtheria-pertussis-tetanus (DPT) immunization. The occurrence of infectious episodes during the month following vaccination was compared to that during the month prior to its administration. The 3 days following vaccination were not included. In comparison to the month prior to immunization, during the month following there were significantly more infants with fever (6.1% vs. 24.4%, p less than 0.001), with diarrhea (7.3% vs. 23.1%, p less than 0.005), and with cough (37.7% vs. 52.4% p N.S.). After the first month of the study, there was an increase in morbidity in the region, so we reevaluated those cases who had been seen during the latter 3 months. The same trend was found: in the month following immunization there were significantly more infants with fever (5.3% vs. 25%, p less than 0.005), with diarrhea (10.5% vs. 28%, p less than 0.02), and with cough (26% vs. 54%, p less than 0.01). There was no correlation between the incidence of these episodes and the age at vaccination. In addition to reactive fever during the first 3 days following DPT immunization, an increase in infectious episodes seems to occur in infants during the month following administration of this vaccine.

Communicable Diseases↗
PubMed1988

Growth and ethnicity in scoliosis.

We analyzed height, weight, and body-mass index of 54,030 male and 38,102 female army recruits who underwent a complete routine health assessment at the age of 17 years. Totally, 6,711 males and 4,864 females were diagnosed as having idiopathic scoliosis and were categorized according to 3 grades of severity. There was a difference in prevalence in both sexes with parental origin from Iraq and western Europe. Females as compared with the males were at increased risk of developing the more severe grades of scoliosis. Young scoliotic adults were taller, lighter, and thinner than the nonscoliotic controls. These differences in height, weight, and body-mass index correlated with the severity of the scoliosis. We suggest that genetic factors and growth pattern are of major importance for the prevalence of scoliosis.

Adolescent↗