PubMed Health⌕ Search

Biomedical subjects

R Neuman

Publications and source records attributed to R Neuman.

At least 19 recordsLinked to original sources
PubMed1996

Increased prevalence of alcoholism in relatives of depressed and bipolar children.

OBJECTIVE: Previous publications from the "Nortriptyline in Childhood Depression: Follow-up Study" reported increased prevalence rates of mood disorders and alcoholism in the relatives of prepubertal depressed subjects. This article presents data on the association versus independent transmission of alcohol and mood disorders in the families of these subjects. METHOD: The follow-up study included 6- to 12-year-olds with major depressive disorder (MDD) and matched normal controls. After 2 to 5 years of follow-up, bipolarity developed in 31.7% of the MDD subjects. Family history data for the first- and second-degree relatives and first cousins of the 76 nonadopted MDD subjects and the 31 controls were obtained from the subjects' mothers, using the Family History-Research Diagnostic Criteria. RESULTS: The prevalence of alcoholism among the relatives of the MDD and bipolar probands was two to three times that reported for control relatives and twice that reported for the relatives of adult MDD and bipolar probands. Mood disorders and maternal alcoholism were independently transmitted while paternal alcoholism increased the risk for mood disorder in offspring. CONCLUSIONS: The potential psychosocial and genetic effects of familial alcoholism need to be considered for the clinical management and investigation of childhood-onset mood disorders.

Adolescent↗
PubMed1995

Ocular cicatricial pemphigoid. A case report of monozygotic twins discordant for the disease.

OBJECTIVE: To identify the major histocompatibility complex markers and the autoantibody associated with ocular cicatricial pemphigoid (OCP) in a proband, her unaffected cotwin, and the children of the cotwin. Ocular cicatricial pemphigoid is a chronic autoimmune disorder that affects the conjunctiva and other squamous epithelium. It is associated with the major histocompatibility complex class II alleles that are presumed to provide enhanced susceptibility to the disease. We encountered a pair of monozygotic female twins, one of whom has OCP. In addition to totally identical physical appearances since birth, the two sisters have identical blood groups. METHODS: The following studies were performed on the patient, her unaffected cotwin sister, and her children: (1) polymorphism of major histocompatibility complex class II genes by DNA typing, (2) sequence analysis of DQ beta gene second and third exons, and (3) serologic evaluation for the presence of anti-basement membrane zone autoantibodies specific for OCP by Western immunoblot with the use of skin and conjunctiva lysates as substrates. RESULT: Both monozygotic twins had the same HLA haplotypes. The sequence analysis of the second and third exons of DQ beta genes revealed no significant differences between the proband and her unaffected cotwin. Autoantibodies specific to OCP were detected only in the patient's serum. The serum of the unaffected cotwin and the other relatives did not demonstrate the presence of the OCP autoantibody. CONCLUSION: This isolated family study does not support a single-gene theory for the development of OCP. It is most likely due to a multigene effect and associated with environmental factors.

Aged↗
PubMed1993

The cost of an extensive burn survival.

A 17-year-old male sustained 95 per cent body surface area burns (87 per cent full thickness skin loss). He was hospitalized in the Department of Plastic Surgery that also treats burns. After 232 days he was discharged home when he was functionally independent. He had 16 surgical procedures for excision of burn eschar and skin grafting; received a total of 128 units of blood; 899 units of fresh frozen plasma and had enteral hyperalimentation for 175 days. About 1000 physician-hours, 3000 nurse-hours, 1000 physiotherapy and occupational therapy-hours and about 250 dietician-hours were needed for his treatment. More than 1850 laboratory tests and 120 X-rays were performed, and more than 600 kg of ointment and creams were used, as well as half a ton of topical antimicrobial solutions. Ten different antibiotics were used for a total of 85 treatment days. Some 8500 m of dressing were applied with more than 6000 pieces of petroleum jelly gauze dressing. Hospitalization costs were found to be US$141,750, only 37.5 per cent of which were salaries. An analysis of these costs is given.

Adolescent↗
PubMed1993

Genetic studies of affective disorders: should we be starting with childhood onset probands?

OBJECTIVE: The objective of this study is to test whether the presence of childhood onset affective disorder identifies families with increased incidence and severity of affective disorders. METHOD: Family history information was collected on the first and second degree relatives and first cousins age > or = 15 years of 22 children with bipolar affective disorder, 54 children with major depressive disorder, and 31 psychiatrically normal children. RESULTS: Compared with the relatives of normal children, relatives identified through children with bipolar affective disorder or major depressive disorder had elevated rates of affective disorders and increased severity of affective disorders as judged by earlier age of onset and increased suicide attempts. Segregation analyses could reject purely environmental transmission of illness. CONCLUSION: Ascertaining families through childhood onset affective disorder probands identifies extended pedigrees with high incidence and severity of affective disorders. These families may be more appropriate for genetic analyses than are families of adult probands.

Adolescent↗
PubMed1993

Polymorphic microsatellite repeat markers at the glucokinase gene locus are positively associated with NIDDM in Japanese.

To assess the possible role of glucokinase defects contributing to a genetic susceptibility to NIDDM in Japanese, allelic frequencies of two microsatellite repeat polymorphisms, one in the 3'-flanking region (GCK1) and the other in the 5'-flanking region (GCK2) of the human glucokinase gene, were analyzed in subjects with NIDDM and in nondiabetic control subjects. After typing 107 diabetic and 74 nondiabetic subjects, we found four GCK1 alleles (Z, Z2, Z4, Z6) and six GCK2 alleles (0, -4, -2, 2, 4, 8). The frequency distribution of GCK1 alleles was different between the two groups (P = 0.005), although not significant after correction for multiple comparisons. The Z4 allele was found more frequently in diabetic than in nondiabetic subjects (23 vs. 10%, P = 0.002). This was still significant after correction for multiple comparisons (P < 0.05). The frequency distribution of GCK2 alleles was not different between the two groups. However, the -2 allele was more common in diabetic than in nondiabetic subjects (P = 0.044), although not significant after adjusting for multiple comparisons. Clinical characteristics were compared between the diabetic subjects with Z4 and/or -2 allele and those without either of these two alleles. No differences were found in the age of diagnosis, positive family history, mode of therapy, current HbA1c, or daily urinary C-peptide immunoreactivity excretion between the two groups. We demonstrated a significant association between GCK1 and GCK2 alleles and NIDDM. The results indicate that the polymorphic alleles GCK1 and GCK2 could be genetic markers in NIDDM in Japanese, suggesting a relationship between glucokinase defects and the susceptibility to NIDDM in this population.

Adult↗
PubMed1992

Report on the sequence of DQB1*0301 gene in ocular cicatricial pemphigoid patients.

Ocular cicatricial pemphigoid (OCP) is an autoimmune disease that affects the conjunctiva and other mucous membranes. Major histocompatibility complex (MHC) class II genes are important in autoimmunity because the antigen is presented to the T cell receptor in association with these molecules. A highly statistically significant association has been observed between patients with OCP and DQw7 (DQB1*0301) gene. DNA sequences of the second and third exons of the DQB1*0301 gene were determined in three OCP patients and compared with a control homozygous cell line for DQw7 from the Tenth International Histocompatibility Workshop. The sequences were identical in the patients studied and reference cell line. This data indicates that DQB1*0301 may only partly provide the enhanced susceptibility to get OCP and that another gene(s) in linkage disequilibrium with it and other factors may play an important role in the pathogenesis.

Amino Acid Sequence↗
PubMed1989

Determining zygosity in the Vietnam Era Twin Registry: an approach using questionnaires.

The Vietnam Era Twin Registry (VETR) is a registry of 7375 American male veteran twin pairs born between 1939 and 1955 who served in the armed forces of the United States between 1964 and 1975. Optimal use of registry data requires the determination of zygosity. Two approaches are available: analysis of blood genetic marker systems and responses of twins to questions about sibling similarity. Zygosity for the VETR was determined using the questionnaire technique supplemented with blood group typing data abstracted from military records. After comparing four alternative zygosity assignment methods, a logistic regression technique which uses discriminating variables based on race was selected. The approach is similar to that described by Magnus et al. (1983) in their study of Norwegian twins, suggesting that questionnaire responses are independent of nationality and reinforcing the reliability of the questionnaire method for zygosity ascertainment.

Adult↗
PubMed1988

Epileptiform bursts elicited in CA3 hippocampal neurons by a variety of convulsants are not blocked by N-methyl-D-aspartate antagonists.

Intracellular and extracellular recordings from CA3 hippocampal neurons in vitro were used to study the ability of several NMDA (N-methyl-D-aspartate) receptor antagonists to suppress epileptiform bursts induced by NMDA and convulsants not thought to act at NMDA receptors. The antagonists, APV (D-2-amino-5-phosphonovalerate), AP-7 (D,L-2-amino-7-phosphonohepatanoate) and CPP (D,L-3[(+/-)-2-carboxypiperazin-4-yl]-propyl-1-phosphonic acid), blocked the spontaneous and evoked bursts induced by NMDA. CPP, but not APV or AP-7, prevented the development of bursts induced by Mg-free medium. The NMDA antagonists failed to block bursting induced by kainate, 7 mM K+, mast cell degranulating peptide, anoxia or spontaneous bursting. In some cases the NMDA antagonists induced spontaneous bursts or enhanced burst frequency, a proconvulsant effect. It is concluded that activation of NMDA receptors is sufficient but not necessary for burst generation in the CA3 region.

2-Amino-5-phosphonovalerate↗
PubMed1988

Epileptogenic properties of the mast cell degranulating peptide in CA3 hippocampal neurones.

The epileptogenic properties of the mast cell degranulating peptide (MCD) have been investigated in the CA3 region of the hippocampal slice preparation. Brief (3-5 min) bath application of MCD (0.5-2 microM) to CA3 hippocampal neurones produced an enhancement of the spontaneous synaptic activity and the appearance of spontaneous bursts that persisted for several hours. These bursts were network driven and the underlying paroxysmal depolarizing shift met the criteria for a giant excitatory postsynaptic potential (EPSP), with a reversal potential close to 0 mV. Furthermore following the application of MCD, stimulation of the mossy fibres, commissural or temporo-ammonic pathway evoked an EPSP followed by an evoked network burst. The bursts which could be elicited for several hours were reversibly blocked by a brief application of tetrodotoxin (TTX; 1 microM) or cobalt (2 mM). In contrast, prior and concomitant treatment with TTX or cobalt prevented the occurrence of the bursts induced by MCD. The effects of MCD were not due to a blockade of GABAergic inhibition since the toxin did not reduce the fast and slow IPSP. Furthermore, the N-methyl-D-aspartate (NMDA) antagonists D-2-amino-phosphonovalerate (D-APV; 30 microM) or DL-amino-phosphoheptanoic acid (AP-7, 30 microM) did not block the action of MCD, suggesting that the activation of NMDA receptors are neither necessary nor sufficient for MCD-induced bursts. It is concluded that MCD induces in the CA3 region long-lasting changes in the synaptic responses which may be mediated through a presynaptic mechanism.

Action Potentials↗