Distinct phenotype in maternal uniparental disomy of chromosome 14.

We report on the occurrence of maternal uniparental disomy for chromosome 14 (mUPD14) in a 4-year-old girl with a de novo Robertsonian translocation, 45,XX,t (13q,14q). The child has arrested hydrocephalus, short stature, minor anomalies, small hands with hyperextensible joints, and mild to moderate developmental delay. Comparison of her phenotype with those of three previously described individuals show some common distinct traits which suggest a mUPD14 syndrome.

Epidemiology of gambling and depression in an adult sample.

As a relationship has been reported between pathological gambling and depression, the objective of this study was to explore whether there was a relationship between gambling and depression in a sample of 400 adults. No relationship was found.

Reversal of insulin-dependent diabetes mellitus after percutaneous pancreatic pseudocyst drainage.

A 75-year-old man achieved complete reversal of insulin-dependent diabetes mellitus after percutaneous, computed tomography-guided, pancreatic pseudocyst drainage. This reversal is believed to have resulted from removal of physiologic stress after drainage. This and previously reported cases of new-onset diabetes following this procedure suggest close serum glucose monitoring in all patients undergoing percutaneous pancreatic pseudocyst drainage.

Subcortical infarction in children.

Background And Purpose: This report examines the occurrence of subcortical infarction in 5 children, reviews the English literature, and discusses evaluation of this uncommon childhood illness.

Methods: Clinical characteristics and neurological follow-up were examined in children who presented with subcortical infarction within the past 7 years. The English literature over the previous 20 years was reviewed to identify similar patients with radiological documentation of subcortical infarction.

Government participation in physician negotiations in German economic policy as applied to universal health care coverage in the United States.

Systems of universal health care coverage in western industrial societies have usually established some form of government participation in negotiations over physician payment as a means of controlling costs. In the Federal Republic of Germany, a mixed private and public body. Concerted Action in Health Care sets a 'target' for physician and 'sickness fund' negotiators.

A quantitative immunohistochemical evaluation of lentigo maligna and pigmented solar keratosis.

Pigmented solar keratosis (PSK) is sometimes clinically indistinguishable from lentigo maligna, a form of malignant melanoma in situ. Occasionally histologic diagnosis is also difficult. Accurate diagnosis is essential, as the treatment and prognosis for each condition differs considerably.

Sense of humor and dimensions of personality.

Previous researchers have demonstrated relationships between sense of humor and personality. Most have viewed sense of humor from the perspective of humor appreciation. Others have taken the approach that sense of humor has two factors: appreciation and creativity.

Ultrastructure of the glomus cells in the carotid body of chronically hypoxic rats: with special reference to the similarity of amphibian glomus cells.

The ultrastructural characteristics of the glomus cells in the rat carotid body exposed to extremely long-term hypoxia (10-12 weeks) were investigated. The glomus cells could be classified into four distinct types according to the shape of dense-cored vesicles in the glomus cell cytoplasm: 1) small vesicle cells (SVCs, 50 nm in mean diameter), 2) large vesicle cells (LVCs, 80 nm in mean diameter), 3) dilated eccentric vesicle cells (EVCs, 400-800 nm in diameter), and 4) mixed vesicle cells (MVCs, large and eccentric vesicles). Many clusters of glomus cells were found to contain all four categories of cell types.

A risk/benefit analysis of spinal manipulation therapy for relief of lumbar or cervical pain.

Approximately 12 million Americans undergo spinal manipulation therapy (SMT) every year. Renewed interest in this method requires an analysis of its reported risks and possible benefits. This review describes two patients with spinal cord injuries associated with SMT and establishes the risk/benefit ratios for patients with lumbar or cervical pain.

Relationships of death anxiety and sense of humor.

The Multidimensional Sense of Humor Scale and the Revised Death Anxiety Scale were completed by a sample of 426 persons aged 18 to 90 years. Only slight relationships were found. The strongest correlation was between scores on death anxiety and on coping humor.

Inhibition of Pneumocystis carinii dihydropteroate synthetase by para-acetamidobenzoic acid: possible mechanism of action of isoprinosine in human immunodeficiency virus infection.

Isoprinosine has been reported to decrease progression to AIDS, primarily by preventing Pneumocystis carinii pneumonia (PCP), in human immunodeficiency virus-infected patients, but the mechanism of action is unknown. para-Acetamidobenzoic acid (PAcBA), one component of isoprinosine, is structurally related to para-aminobenzoic acid (PABA), a precursor of de novo folate synthesis. This pathway is known to be important for P.

A reconstituted, apolipoprotein A-I containing lipoprotein reduces tumor necrosis factor release and attenuates shock in endotoxemic rabbits.

A reconstituted lipoprotein, containing human apolipoprotein A-I and phosphatidylcholine (1:200, molar ratio), referred to as ApoLipo, was used prophylactically in an endotoxin shock model in anesthetized rabbits. ApoLipo was administered at a dose of 75 mg protein/kg body weight 15 min before the beginning of a slow, continuous lipopolysaccharide (LPS, endotoxin) infusion (4.17 micrograms LPS/kg/hr).

Effect of chronic hypoxia on hypoxic ventilatory response in awake rats.

We compared the hypoxic ventilatory response (HVR) of two groups of unrestrained awake male rats (300-550 g): those acclimatized to hypoxia > 7 wk at simulated altitude (380 Torr, n = 12) and sea level controls (n = 8). Chronic catheters were placed in the iliac artery and vein 3-7 days before study. An "on-line" system was used to measure arterial PO2 and PCO2.

Multiple genes encode the major surface glycoprotein of Pneumocystis carinii.

The major surface antigen of Pneumocystis carinii, a life-threatening opportunistic pathogen in human immunodeficiency virus-infected patients, is an abundant glycoprotein that functions in host-organism interactions. A monoclonal antibody to this antigen is protective in animals, and thus this antigen is a good candidate for development as a vaccine to prevent or control P. carinii infection.

HLA typing in Irish psoriatics.

Histocompatibility antigens were determined in 93 unrelated Irish psoriatic patients. The results were compared with the HLA profiles of 253 healthy unrelated Irish controls. There was a statistically significant increase in HLA B17 (P < 0.

The Demodex mite population in rosacea.

Background: The cause of rosacea is unknown; among other factors a causative role has been postulated for the hair follicle mites Demodex folliculorum and Demodex brevis.

Objective: Our purpose was to compare the population density of Demodex mites in facial skin of defined categories of patients with rosacea with control subjects. We also assessed the impact of tetracycline therapy on the mite population.

Diffusion limitation in comparative models of gas exchange.

Piiper and Scheid (Resp. Physiol. 23: 209-221, 1975) compared different models of external gas exchange with performance indices defined as functions of ventilatory/perfusive and diffusive/perfusive conductance ratios (Gvent/Gperf and Gdiff/Gperf, where Gdiff is diffusing capacity).

Labial melanotic macule: a clinical, histopathologic, and ultrastructural study.

Background: The labial melanotic macule (LMM) is a recently described pigmentary anomaly that may simulate malignant melanoma.

Objective: Our purpose was to define the LMM clinically, histologically, and immunohistochemically in a large group of patients.

Methods: We describe the clinical features of 36 LMMs in 29 patients (aged from 4 to 79 years, 4 male, 25 female) seen during the past 4 years.

Development and validation of a Multidimensional Sense of Humor Scale.

Personal sense of humor has been recognized as a coping mechanism. Sense of humor as a construct, however, is multidimensional. Existing efforts to assess overall sense of humor are, for a number of reasons, deficient.

Odontoid fractures in elderly patients.

This retrospective analysis describes the clinical characteristics, treatment, and outcome of 19 patients aged 80 years or older with odontoid fractures. The fractures were due to falls in 15 patients (78.9%) and were associated with motor-vehicle accidents in four.

Paraneoplastic pyoderma gangrenosum.

Pyoderma Gangrenosum (PG) is often associated with an underlying disease. PG as a paraneoplastic disease is illustrated by the presentation of four patients with malignancy of myeloproliferative origin and PG. An associated malignancy is found in approximately 7% of patients with PG, most commonly haematologic in nature and in particular leukaemia.