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At least 1,747 records · Page 97Linked to original sources
PubMed1988

Homozygous protein C deficiency in a newborn. Clinicopathologic correlation.

A rare case of homozygous protein C deficiency occurred in a newborn. The patient presented with purpura fulminans in the first few hours after birth and showed multiple hemorrhagic lesions on computed tomography of the brain at 5 days of age. Neurologic symptoms developed at two weeks and the patient died at 37 weeks. His protein C level was less than 5%. Autopsy revealed thrombosis of the dural sinuses, multiple cortical infarcts, intraparenchymal hemorrhages, and hydrocephalus. The pathologic findings are correlated with the neurologic deficits and previously documented cases are reviewed.

Blood Coagulation Disorders↗
PubMed1996

Mythos and logos in Hesiod's Theogony, circa 700 B.C.

Hesiod's Theogony, a completely preserved poem, is dated from about 700 B.C. It depicts partly a development, partly a situation that has arisen in the course of time in the world. It constitutes an attempt to understand the cosmos as the product of a genealogical evolution, which can be seen as a process of successive separation, differentiation, and hierarchization. In this attempted picture of the world myth and reality are inextricably interwoven. Observations of natural phenomena as far as of congenital malformations are accordingly exaggerated and undergone mythical transformation. Entities enumerated in this genealogical poem, no matter whether they stand for parts and concrete phenomena of the physical world or intellectual properties and abstract concepts, behave, think, and act, and are accordingly though of, in anthropomorphic terms. Monogamy, polygamy, endogamy, exogamy, asexual and sexual reproduction, multiple conceptions and births, dominantly and recessively inherited traits, normal and abnormal offspring, and perceptions and notions on cosmogony, isogamy, and teratogenesis could be observed in the writing of the Theogony and interpreted by rational modern concepts.

Genetics↗
PubMed2004

Early diagnosis of Wolf-Hirschhorn syndrome triggered by a life-threatening event: congenital diaphragmatic hernia.

Wolf-Hirschhorn syndrome (WHS, OMIM 194190) is a chromosomal disorder characterized by retarded mental and physical growth, microcephaly, Greek helmet appearance of the facies, seizures/epilepsy. Closure defects of lip or palate, and cardiac septum defects occur in 30-50% of cases. Its cause is a deletion in the short arm of chromosome 4. We present a male patient, born after 37 weeks gestation, as the fourth pregnancy of non-consanguineous healthy parents, with unilateral cleft lip and palate, hypertelorism, a right-sided ear tag, and mild epispadias. At age 10 weeks he developed acute respiratory distress and acute bowel obstruction requiring emergency laparotomy. This revealed a left-sided posterolateral diaphragmatic defect, type Bochdalek, with incarceration of the small intestines necessitating major bowel resection. Clinical genetic investigation suggested a chromosome anomaly, but regular karyotyping was normal. However, FISH analysis showed a microdeletion in the short arm of chromosome 4 (4p-), consistent with WHS. A combination of this syndrome with congenital diaphragmatic hernia (CDH) has been rarely described. CDH can present either as an isolated defect at birth, or with multiple congenital abnormalities, or as part of a defined syndrome or chromosomal disorder. Therefore CDH, although not common in WHS, can lead to its diagnosis relatively early in life. We strongly recommend a clinical genetic evaluation of each CDH patient with facial anomalies taking into consideration 4p- deletion syndrome.

Abnormalities, Multiple↗
PubMed2005

Association of anophthalmia and esophageal atresia: four new cases identified by the anophthalmia/microphthalmia clinical registry.

We report four new cases of the rare association of anophthalmia and esophageal atresia. There are only nine cases previously reported in the literature with this association. Our cases appear to be distinct from those already reported, thus increasing the number of cases to thirteen. Advances in developmental biology have shown that mutations in developmental genes active early in embryogenesis can lead to birth defects in multiple, seemingly unrelated systems. The network of genes that directs development has been highly conserved through evolution. Several transcription factors have been shown to be important in regulating eye development. Mutations in these developmental genes may be the cause of this clinical association.

Abnormalities, Multiple↗
PubMedDate not supplied

Congenital muscular dystrophy: case reports and reappraisal.

We report four cases of congenital muscular dystrophy; all demonstrated hypotonia and multiple contractures at birth. Strength remained stationary or improved, but the tendency for contracture formation persisted. Brief small amplitude polyphasic potentials were recorded on electromyography, and muscle biopsy revealed extensive fat and/or collagen replacement, which was out of proportion to fiber necrosis or patient strength. The consistent clinical and pathologic features of these patients and others described in the literature justify considering this disorder to be a specific nosologic entity.

Child↗
PubMed2007

Models for assisted conception data with embryo-specific covariates.

Assisted conception routinely involves multiple embryo implantation within each recipient mother, with the outcome of interest being the number and multiplicity of live births. Here we consider the situation in which covariate information, potentially predictive of outcome, is available at the embryo level for each individual implanted embryo. This presents two challenges: firstly the outcome is measured at a higher, recipient, level than the covariates of interest; and secondly it is generally not known which of the implanted embryos developed to give a successful pregnancy. In practice such data have usually been analysed by aggregation of the embryo-level covariates to the recipient-level. Here we consider and compare two alternative approaches which respect the structure of the data alongside the aggregated approach. The first is a deterministic model with separate embryo and recipient success probabilities, each determined by a set of covariates, as first proposed by Spiers and extended by Zhou and Weinberg. The second is based on a multilevel model with the correlations between embryos in the same recipient modelled by a recipient level random effect. These models are compared using two real data sets, and the model properties further explored in a simulation study.

Analysis of Variance↗
PubMed1993

Colorectal cancer in Denmark 1943-1988.

Nation-wide incidence rates are presented of colorectal cancer in Denmark from 1943 to 1988. In Denmark notification of malignant and related diseases is mandatory. The percentage of histologically confirmed tumours is now 95. The annual incidence rate of colon cancer in Denmark has been increasing among men and women combined from 684 cases in 1943-47 to 2020 cases in 1988. In the same period the incidence of rectal cancer has been increasing from 762 cases in 1943-47 to 1108 cases in 1988. We analyzed the effects of age, calendar time, and birth cohort with multiplicative Poisson models. We did not find consistent period effects in the models. We suggest the trends in colorectal cancer incidence rates may be due to changes in environmental factors such as dietary habits and in physical activity. Furthermore, we suggest an etiologic distinction between carcinoma of the rectum, the left colon and the right colon.

Cohort Effect↗
PubMedDate not supplied

Massive plexiform neurofibroma in the orbit in a child with von Recklinghausen's disease.

We report a case of orbital plexiform neurofibroma presenting in a 10-year-old boy with von Recklinghausen's neurofibromatosis. The patient had shown a slow enlargement of exophthalmos of the right eye present since birth, together with multiple café au lait spots on the skin of the trunk. Magnetic resonance (MR) images revealed diffuse and irregular nodular involvement of the retrobulbar nerves within the muscle cone, which was confirmed at the surgery. The tumour extended into the ipsilateral cavernous sinus. We discuss the MR findings as pathognomonic signs of this rare orbital tumour, including its multinodular nature among dispersed intraconal fat tissue, location around the optic nerve, extension through the superior orbital fissure into the cavernous sinus and association with von Recklinghausen disease.

Child↗
PubMed2002

Surfactant protein B polymorphism and respiratory distress syndrome in premature twins.

Recent evidence suggests that the susceptibility to respiratory distress syndrome (RDS) is partly explained by genetic variation in the surfactant proteins (SP) SP-A and SP-B. The present study was designed to evaluate the concordance difference method and candidate gene analysis, in parallel, for the investigation of genetic susceptibility to RDS. We studied 100 same-sex twin pairs with established RDS in at least one twin. The difference in RDS concordance rates between the monozygotic (MZ) and dizygotic (DZ) twin pairs as evidence of a genetic influence was evaluated, and the SP-A and SP-B genes were investigated for potential associations with the susceptibility to RDS. The concordance rates of RDS were 54 and 44% in the MZ and DZ pairs, respectively. The concordance difference of 10% was not significant [95% confidence interval (CI) -0.1 to +0.3, P=0.32], suggesting a low hereditary impact. However, the SP-B Ile131Thr polymorphism was associated with RDS. The threonine allele was associated with an increased risk of RDS [odds ratio (OR) 2.2, 95% CI 1.4-3.5, P=0.0014]. This was particularly apparent in first-born male infants (OR 6.2, 95% CI 2.4-16.3, P<0.001). The degree of prematurity (<32 weeks OR 2.0, 95% CI 1.1-3.7, P=0.021) and birth order (second-born OR 3.1, 95% CI 1.3-7.4, P=0.009) were the clinical variables affecting the risk of RDS. An association between the SP-B Ile131Thr polymorphism and RDS was found. The threonine allele was associated with the risk of RDS, particularly in the first-born twin infants. The concordance difference between MZ and DZ twin pairs underestimates the genetic impact on the risk of RDS. The traditional twin concordance study is insufficient to evaluate genetic predisposition to RDS or other diseases that are confounded by the birth order or multiple pregnancy in itself.

Diseases in Twins↗
PubMed1996

An earlier fracture as a risk factor for new fracture and its association with smoking and menopausal age in women.

OBJECTIVES: The purpose of this study was to investigate whether a previous fracture is a risk factor for fracture later in life and its association with tobacco smoking, menopausal age and the use of oral contraceptives. This is an epidemiological population study based on a questionnaire. A sample of 10000 women from seven birth cohorts between 1900-1940 was obtained at random from the population register. The overall response rate was 74.6%. The responders (n = 7459) represented 53% of the total population. METHODS: The women from all these birth cohorts were questioned regarding a possible history of fractures and the year in which they were sustained. The questionnaire also included questions about menopausal age, use of oral contraceptives, previous gynaecological operations and possible oestrogen medication. The women from the 1900-1920 birth cohorts were questioned in detail about urogenital disorders, while tobacco smoking data were recorded only for the 1930 and 1940 birth cohorts. RESULTS: The relative risk of sustaining a further fracture was significantly related to fracture premenopausally before 40 years of age and later fracture postmenopausally after 60 years of age (1.29; 0.97-1.70) compared to controls (0.78; 0.59-1.03)(P = 0.03). Both an early menopause and tobacco smoking were associated significantly with repeated fractures, while use of oral contraceptives had a protective effect against repeated fractures in the 1940 birth cohort. Logistic multiple regression showed that a fracture was a significant independent risk factor for further fracture in both cohorts 1900-1920 (P < 0.01) and 1930-1940 (P < 0.05). CONCLUSIONS: This study suggests poorer protective resources against new fractures among women with previous fractures, and that lack of oestrogen menopausally can partly explain the enhanced risk of fracture, not only during the menopause but also later in life when a hip fracture may have immense consequences. The results should draw our attention to emphasise the need for active treatment of patients with established osteoporosis because of the increased risk of new fractures later in life.

Age Factors↗
PubMed1998

Rehospitalizations and outpatient contacts of mothers and neonates after hospital discharge after vaginal delivery.

OBJECTIVE: Our purpose was to determine whether length of hospital stay after vaginal delivery as determined by the discharging physician is associated with rehospitalizations or increased outpatient contacts by mothers and neonates and to assess the impact of home health care visits. STUDY DESIGN: An inception cohort study of all rehospitalizations and outpatient contacts of mothers and neonates after vaginal delivery at St. Joseph Hospital, Denver, Colorado, was done from January 1, 1994, to September 30, 1995. All Kaiser Permanente mother-neonate pairs in which the delivery was vaginal (excluding those with multiple gestations or birth weight < 2500 g) were included. Length of initial hospital stay was divided into three time periods: < or = 24 hours, 25 to 48 hours, and > 48 hours. The Colorado Kaiser Permanente Perinatal Database was used to identify perinatal and demographic factors that might have increased health care use. Additional information was sought in administrative databases, bill records, and inpatient charts. Mothers were followed up for 6 weeks and neonates for 28 days after delivery. Home care visits were provided to more than half the mothers and neonates by means of a standardized protocol. The main outcome measures were rehospitalizations and outpatient visits for mothers and neonate, controlling for home care visits. RESULTS: A total of 4323 mother-neonate pairs were identified. For the mothers, a longer initial hospital stay (> 48 hours) was significantly associated with both readmission (P < .01) and increased outpatient care use (P = .01) in the 6-week postpartum period. Thirty-five mothers (.81%) were rehospitalized by 6 weeks. Maternal factors associated with increased outpatient contacts were preeclampsia, preterm delivery, and instrument delivery. Sixty-seven neonates (1.55%) were readmitted to the hospital. Home care visits reduced the need for both readmissions and outpatient visits. CONCLUSIONS: For mothers in this cohort a longer initial hospital stay was significantly associated with hospital readmission and increased outpatient care in the postpartum period. Further analysis revealed that mothers with recognized potential and observed problems were rarely discharged in < or = 24 hours. We did not find statistically significant problems among neonates that were related to the length of their initial hospital stay. Those neonates receiving home care were less likely to require hospital readmission and less likely to seek outpatient care. It is unlikely that a single discharge policy will be appropriate for all mothers and neonates.

Adult↗
PubMed1997

Vaginal delivery after cloacal malformation repair.

BACKGROUND: Patients with cloacal malformations at birth usually require multiple surgical procedures to correct their anatomic defects. Those who conceive after repairs invariably have had cesarean deliveries on the assumption that vaginal delivery would be difficult and/or dangerous. However, because they usually have undergone multiple previous abdominal procedures, cesarean delivery also may carry greater risks than in the general population. CASE: A 27-year-old nulligravida was delivered vaginally at 34 1/2 weeks' gestation, with a good maternal and neonatal outcome. CONCLUSION: Judiciously treated, pregnant patients with previously repaired cloacal malformations may be candidates for vaginal delivery.

Abnormalities, Multiple↗
PubMed2000

Differentiating incest survivors who self-mutilate.

OBJECTIVE: This study was an exploratory analysis of the variables which differentiated incest survivors who self-mutilate from those who do not. METHOD: A sample of women incest survivors (N = 84) were divided into two groups based on the presence or absence of self-mutilation. Participants included both community and clinical populations. A packet consisting of a demographic questionnaire, Sexual Attitudes Survey, Diagnostic Inventory of Personality and Symptoms, Dissociative Events Scale and the Beck Depression Inventory was completed by each participant. RESULTS: Demographic, incest, and family of origin variables distinguished the self-mutilating women from those who did not. These include ethnicity and educational experiences; duration, frequency, and perpetrator characteristics regarding the incest; and multiple abuses, instability, birth order, and loss of mother in one's family of origin. Psychological and physical health concerns also differentiated between the two groups. CONCLUSIONS: Many variables may differentiate between women incest survivors who self-mutilate from those who do not. A rudimentary checklist to describe the lives of incest survivors who self-mutilate resulted from these findings. The importance of the concept of embodiment is also discussed.

Adolescent↗
PubMed1996

Hypoplasia of the epiglottis: case report and review.

We report an infant born with a hypoplastic epiglottis and present the first in vivo photograph of the condition. Absence or hypoplasia of the epiglottis is a rare anomaly. Previously reported cases either died shortly after birth due to multiple congenital anomalies or details of the outcome were lacking. The clinical effects of hypoplastic epiglottis are discussed.

Abnormalities, Multiple↗
PubMedDate not supplied

Management of cleft lip and palate in primary care.

Cleft lip and palate malformations are the most common congenital craniofacial abnormalities. Patients with these deformities require coordinated care involving multiple disciplines from birth throughout adolescence. The primary care provider plays a vital role in facilitating the provision of care for these patients, who often have numerous health care needs, including feeding difficulties, speech disorders, chronic ear infections, and dental and orthodontic problems. The emotional issues of patients with these deformities and their families are significant and include disrupted parent and child bonding, body image disturbances, and impaired socialization. The role of the primary care provider is to be a stable source of support for these patients and to assist in coordinating care for the many physical and emotional problems they may have.

Child, Preschool↗
PubMed2003

Triplets after cloacal malformation repair.

BACKGROUND: Patients with cloacal malformations at birth usually require multiple surgical procedures to correct their anatomic defects. In addition, many also have associated Müllerian anomalies. Those who conceive after repairs invariably are considered "high-risk" pregnancies and are considered poor candidates for maintaining multiple gestations. Further, because of the nature of their defects and their repairs, following such patients with multiple gestation presents unique challenges. CASE: A 29-year-old multipara conceived triplets and delivered at 30 weeks with a good maternal and neonatal outcome. CONCLUSIONS: Patients with repaired cloacal abnormalities present unique challenges and risks compared to the general population with regard to the risks of multiple pregnancies.

Adult↗
PubMed1997

Neonatal androgen and estrogen treatments masculinize the size of motoneurons in the rat spinal nucleus of the bulbocavernosus.

1. Newborn female rats were injected with either a nonaromatizable androgen, dihydrotestosterone propionate (DHTP; 1 mg), or estrogen benzoate (EB; 100 micrograms), or both, or sesame oil vehicle only as a control. In the first experiment, females were injected only on the day of birth (day 1). In the second experiment, females were given daily injections on either days 1, 3, and 5 of life or on days 6, 8, and 10. At 60 days of age the animals were sacrificed and the size of the somata and nuclei of motoneurons in the spinal nucleus of the bulbocavernous (SNB) was determined. 2. As in earlier studies, neonatal EB had no effect on the adult numbers of SNB cells, and the present study demonstrated estrogen's ineffectiveness in this regard in either the absence or the presence of DHTP. Nor did neonatal estrogen influence the survival of the SNB target musculature. 3. In agreement with previous studies, early DHTP treatment resulted in more SNB cells in adulthood and both late and early neonatal treatment with DHTP also resulted in larger SNB cells in adulthood. 4. We report for the first time that neonatal EB treatment also resulted in larger adult SNB cells. EB exerted this effect after a single injection on the day of birth or after multiple injections during the early neonatal period (days 1-5) but not after late neonatal injections. 5. These data suggest that both androgens and estrogens normally act to masculinize the size of SNB motoneurons, while only androgens affect the number of SNB cells.

Age Factors↗
PubMed2003

Parental and birth characteristics in relation to testicular cancer risk among males born between 1960 and 1995 in California (United States).

OBJECTIVE: We explored birth and parental risk factors for testicular cancer, examining risk factors for all testicular cancers and by histologic type. METHODS: We linked 1645 testicular cancer cases to live singleton birth certificates, selecting three random controls per case, matched by sex and date of birth. We used conditional multiple logistic regression to assess the mutually adjusted effects of parental and birth characteristics on testicular cancer risk. RESULTS: Sons of Black mothers had a lower risk than those of White mothers (adjusted odds ratio (AOR) = 0.38, 95% confidence interval (CI)=0.12, 1.22). Increasing maternal age was associated with an increased risk in offspring (AOR=1.03 for each year of maternal age, 95% CI=1.01, 1.05). Sons of primiparous and low-multiparous women had increased risks compared to sons of high-multiparous women (AOR=1.22, 95% CI=1.04, 1.44; and AOR=1.31, 95% CI=1.12, 1.54, respectively). Among seminomas, term infants with birth weights of 1500-2499 g had a higher risk compared to term, normal birth weight infants (AOR=2.69, 95% CI=1.40, 5.17; p-value for homogeneity=0.008). CONCLUSIONS: Markers of higher estrogen exposure in the mother (age and parity) are associated with increased testicular cancer risk, and factors associated with fetal growth retardation may be associated with seminoma testicular cancer.

Adolescent↗