An immunohistochemical study of the secretory immune system in human fetal endocrine glands and their precursors.

We examined the presence and distribution of components of the secretory immune system (SIS) in fetal endocrine organs and their embryonic precursors. Specimens from 16 embryos (4 to 8 weeks of development) and 32 fetuses (9 to 38 weeks) were divided into those that had not been exposed to massive foreign antigenic effects (Group I, n=28) and those that had suffered from chorioamnionitis (Group II, n=20). An immunohistochemical study was performed using antibodies against the secretory component (SC), joining (J) chain, IgA, IgM, IgG, subsets of T and B lymphocytes, and macrophages. Positive immunostaining for SIS components in the precursors of endocrine organs was seen from 4 to 6 weeks of development, and was present thereafter in the pituitary body, thyroid, pancreatic islets and adrenals. J chain and immunoglobulins were found in all endocrine cells throughout intrauterine development, but the massive antigenic influence caused by chorioamnionitis decreased the latters immunoreactivity. The presence of SC in the precursors of adenohypophysis and pancreatic islet cells decreased significantly after their transformation into definitive endocrine organs. In the thyroidal follicular epithelium and the pars intermedia of the pituitary body cells, SC was present during the entire period of pregnancy. In adrenals, SC was not found. Maternal immunoglobulins, together with SC and J chain, are accumulated in endocrine gland cells from the early stages of intrauterine life. They are the major mechanism of endocrine cell defense during the early prenatal period when the common immune system is still structurally and functionally incompetent.

Behavioral phenotypes of genetic syndromes: a reference guide for psychiatrists.

OBJECTIVE: To review the literature on behavioral phenotypes of genetic syndromes, displaying the data as a reference guide for everyday practice. METHOD: A computerized search was performed for articles published in the past 10 years, and selected papers were surveyed. RESULTS: The behavioral phenotypes of 11 major genetic syndromes were reviewed including the following topics: genetic etiology, genetic counseling, physical features, medical problems, cognitive and behavioral profile, and psychopathology. The speculated correlation between the identified gene and the pathophysiology of the cognitive and behavioral features is discussed. CONCLUSIONS: Updated knowledge of behavioral phenotypes will help psychiatrists identify these conditions, refer the patient and his/her family for genetic diagnosis and counseling, make specific treatment recommendations, and contribute to research and syndrome delineation.

Immunoprotection of gonads and genital tracts in human embryos and fetuses: immunohistochemical study.

PROBLEM: The immune protection of genital organs in embryogenesis has not been sufficiently studied. The purpose of this study was to investigate the development of the secretory immune system (SIS) in the gonads and genital tracts of human embryos and fetuses. MATERIALS AND METHODS: Developing gonads at different stages and genital tracts from 18 embryos and 39 fetuses in the first to third trimester of gestation were analyzed for presence of different component of SIS: secretory component (SC), joining (J) chain. IgA, IgM, IgG, macrophages, and subsets of lymphocytes. The material was divided into two groups: cases not subjected to foreign antigenic effects (group I, n = 31) and those under antigenic attack (chorioamnionitis, group II, n = 26). RESULTS: In embryos and fetuses of group I, SC, J chain, and IgG were seen in the epithelium of mesonephric and paramesonephric ducts, proliferating coelomic epithelium, epithelium of the uterine tubes and uterus, epithelium of the vas deferens, epididymis, and rete testis. IgA and IgM appeared in 6-week-old embryos. J chain, IgA, IgM, and IgG, but not SC, were found in the primary oocytes and oogonia, spermatogonia. and interstitial cells. An abundance of macrophages was seen in 4-week-old embryos. T and B lymphocytes first appeared in 6-7-week-old embryos. In embryos and fetuses of group II, reactivity of immunoglobulins (Igs) decreased until they disappeared altogether. CONCLUSIONS: Components of SIS were seen in genital organs in 4-5-week-old embryos and were present during the whole intrauterine period. We suggest the presence of two forms of immune protection of fetal genital organs. One form contains SC, J chain, and Igs and is present in the genital tract epithelium. The second form contains only J chain and Igs and is present in germ cells of gonads. The loss of Igs in cases with chorioamnionitis reflects the functional participation of the SIS of genital organs in response to antigen attack.

Postictal psychosis in a child.

Postictal psychoses are brief psychotic episodes that usually occur after poorly controlled partial complex seizure clusters. The psychosis commonly appears following a lucid interval, ranging from a few hours to days after seizure termination. An underlying structural brain abnormality is common and usually involves the temporal lobe. Postictal psychosis, while well known in adults, has not been described previously in children. We describe a 9-year-old boy with right hemiparesis due to a neonatal stroke, who developed a postictal schizophrenia-like psychosis following status epilepticus. Electroencephalography showed left-sided slowing. A brain computed tomographic scan and magnetic resonance imaging revealed left hemisphere hypoplasia. A 99mTc-ECD single photon emission computed tomographic scan of the brain revealed decreased left-hemisphere perfusion, most pronounced to the medial temporal lobe. The psychosis resolved gradually over 7 days without antipsychotic therapy. To the best of our knowledge, this is the first description of postictal psychosis in a child.

Vaginal glomus tumor presented as a painless cystic mass.

OBJECTIVE: To present clinical and pathological findings of extremely rare vaginal glomus tumor. METHODS: Clinical details were obtained from patient records. Histopathological examination included immunohistochemistry. RESULTS: A 45-year-old menopausal woman had a 4-year history of painless cystic mass, 1.0 cm in diameter, on the anterior vaginal wall. Surgical excision of mass was uneventful. Histological examination revealed glomus tumor, primarily solid but also containing a clearly identifiable angiomatous component. Tumor cells showed prominent cytoplasmic immunostaining for vimentin and actin and negative staining for desmin, epithelial membrane antigen, pancytokeratin, Factor VIII, S-100, HMB-45, chromogranin, and estrogen, progesterone, and androgen receptors. CONCLUSION: Vaginal glomus tumor may be painless and, when the angiomatous component is evident, may appear as cystic mass.

[Renal tubular dysgenesis in upper and western Galilee].

Renal tubular dysgenesis (RTD) is a very rare malformation. 48 cases have been described, mostly in North America, Europe and Israel. Histopathological examination plays a key role in its diagnosis of RTD. We present the results of a retrospective study documenting the frequency, clinical manifestations and pathological findings in RTD in the Upper and Eastern Galilee. In 343 perinatal autopsies performed in Safed and Nahariya Hospitals between 1974 and 1997, there were 5 cases with RTD. All were men, 3 were Druze and 2 were Jews. The parents of the Druze patients were first cousins; 2 cases were twins of whom 1 had RTD; intrauterine growth retardation was documented in 2 and oligohydramnios in 3 cases. Life span of 4 newborns ranged from 1.1 to 49 hours and was complicated by severe respiratory failure and anuria. Ultrasound and postmortem examinations revealed no pathology of the kidney and urinary tracts. Absence of the proximal tubules was supported by immunohistochemistry for epithelial membrane antigen. Our previous assumption about the importance of lysozyme immunostaining for diagnosis of RTD was confirmed by this larger series of cases and by statistical analysis. Because RTD is considered an autosomal recessive phenotype with a recurrence rate of 25%, there should be genetic counseling of the family in every case of RTD.

Combined clozapine-lithium treatment for schizophrenia and schizoaffective disorder.

Three adolescent and two adult patients suffering from chronic excited psychoses (either schizophrenia or schizoaffective disorder) resistant to traditional neuroleptics and clozapine were treated with combined clozapine-lithium. Improvement was assessed with the Positive and Negative Symptoms Scale, the Brief Psychiatric Rating Scale and the Clinical Global Impressions, administered before and during combined clozapine-lithium treatment. All patients demonstrated a significant improvement with this combination. There was no occurrence of agranulocytosis, neuroleptic malignant syndrome or other clinically significant adverse effects.

Heterogeneity in adducted thumbs sequence.

We report on a boy with adducted thumbs, microcephaly, swallowing difficulties, hypotonia, and severe mental retardation, but without craniostenosis or arthrogryposis. An MRI scan showed myelinization according to age and mild ventricular enlargement. A muscle biopsy documented irregular-shaped and swollen mitochondriae, but results of mitochondrial function tests were normal. The clinical findings were consistent with a developmental defect of the central nervous system. We include a brief review of the 9 reported cases with adducted thumbs sequence.

[Urinary bladder transitional cell carcinoma with trophoblastic differentiation].

Transitional cell carcinoma (TCC) with trophoblastic differentiation (TD) is a newly recognized variant of urothelial cancer which produces placental proteins, predominantly beta-human chorionic gonadotropin (HCG). It has a poor prognosis. About 210 cases were described, mostly from North America, Europe and Japan. This is the first report of TCC TD in a resident of Israel's upper Galilee. A 69-year-old man whose urinary papillary bladder tumor was established cystoscopically, refused treatment and stopped follow-up. 3.5 years after his last visit, he returned and cytologic examination revealed malignant urothelial cells, while intravenous pyelography disclosed a urinary bladder defect. Cystoscopy showed numerous papillary masses dispersed over the bladder mucosa, which were resected transurethrally. Histopathologic examination revealed TCC grade III, stage A. Tumor cells were immunopositive for beta-HCG and human placental lactogen. 4 transurethral resections of large masses were performed within 2 months. Pulmonary metastases developed and the patient died 4 years after the detection of the urinary bladder tumor.

[Renal tubular dysgenesis].

Renal tubular dysgenesis (RTD) is a very rare malformation, only 24 cases having been described. We present the case of twins born after 28 weeks gestation to a newly-arrived Ethiopian immigrant in whom oligohydramnios was diagnosed when she was admitted. 1 twin had developed polyhydramnios, died before birth and was born with hydrops fetalis. The other newborn suffered from pulmonary distress and anuria, and died 2 days after birth. At autopsy there were no apparent changes in the kidneys or urinary tract, but histological examination showed absence of proximal convoluted tubules. This was attributed to RTD and confirmed by histochemical examination.

Renal tubular dysgenesis present in a newborn with meconium ileus.

The combination of renal tubular dysgenesis (RTD) and meconium ileus in a native Israeli is presented for the first time. The clinical diagnosis was oligohydramnios and abruptio placentae, respiratory failure, and anuria refractory to treatment. The autopsy revealed meconium ileus and meconium peritonitis. RTD was established by the detection of a monomorphous undifferentiated population of tubules, absence of proximal tubules, and dense epithelial membrane antigen immunoreactivity of all tubules. The lack of alpha 1-antitrypsin- and lysozyme-immunoreactive tubules was first revealed in the kidney with RTD. These findings extend the possibilities of RTD detection.