1/92. Distal neonatal intestinal obstruction: the choice of contrast material.The use of barium sulfate as the contrast agent of choice in the radiographic evaluation of distal neonatal intestinal obstruction is advocated. The advantages of Gastrografin or other water-soluble contrast materials are far outweighed by their disadvantages, which include the hazards of hypertonic dehydration and the danger of missing the diagnosis of Hirschsprung's disease. Five patients are presented, all of whom had the diagnosis of Hirschsprung's disease missed in the neonatal period with one use of Gastrografin enemas. All five were subsequently admitted to the Surgical Neonatal intensive care Unit, critically ill with enterocolitis of Hirschsprung's disease.- - - - - - - - - - ranking = 1keywords = fat (Clic here for more details about this article) |
2/92. Two forms of cutis laxa presenting in the newborn period.Two infants are described with congenital cutis laxa. They represent two distinct disorders. In the first, congenital cutis laxa is associated with a generalized disorder of elastic tissue in which there may be diaphragmatic or other hernias, diverticula of the gastrointestinal or urinary tract and infantile emphysema. The disease is fatal often within the first year. In the second, congenital cutis laxa is associated with widely patent anterior fontanel, a variety of malformations, and retarded growth and development. Recognition of these distinct syndromes in the newborn period and their recessive inheritance permit realistic discussion of the prognosis which is very different from the benign dominant forms of cutis laxa.- - - - - - - - - - ranking = 1keywords = fat (Clic here for more details about this article) |
3/92. Sequential peripartum herpes simplex virus type 2 disease in parents and their newborn mimicking intrafamily spread of common viruses.herpes simplex type 2 (HSV2) disease developed sequentially among two parents and their newborn. The father first became ill with upper-respiratory symptoms and fever. Then, 5 days later, shortly after delivery, the mother had fever, pharyngitis, and diarrhea. Subsequently, the infant developed undifferentiated febrile illness at the age of 3 days. HSV etiology was recognized by incidental isolation of HSV2 from the newborn naospharynx. The father never developed genital lesions and the mother's symptoms remained nonspecific for several days prior to the onset of genital manifestations. The sequential emergence and manifestations of these infections could have been misconstrued for an intrafamily spread of respiratory or enteric viruses. This cluster illustrates that HSV2 may cause sequential symptomatic disease in susceptible individuals mimicking other viruses.- - - - - - - - - - ranking = 2keywords = fat (Clic here for more details about this article) |
4/92. Giant congenital melanocytic nevus with underlying hypoplasia of the subcutaneous fat.A 17-week-old boy with a giant congenital melanocytic nevus (GCMN) of the left lower extremity was noted to have a reduction in circumference of the left lower extremity relative to the contralateral side. The skin overlying the GCMN was persistently warm when compared with the surrounding and contralateral skin. Comparative plain radiography, ultrasonography, and magnetic resonance imaging showed fat hypoplasia of the left lower extremity, with bone and muscle appearing unaffected. The possible role of cytokines produced by the nevus in fat hypoplasia in GCMN is discussed.- - - - - - - - - - ranking = 5100.8434328564keywords = subcutaneous fat, fat (Clic here for more details about this article) |
5/92. Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system.Cardiac conduction defects associate with mutations in SCN5A, the gene encoding the cardiac Na channel. In the present study, we characterized a family in which the proband was born in severe distress with irregular wide complex tachycardia. His older sister died at 1 year of age from severe conduction disease with similarly widened QRS-complexes. Mutational analysis of SCN5A in the proband demonstrated compound heterozygosity for a nonsense mutation (W156X), inherited from the father, and a missense mutation (R225W), inherited from the mother. Genotyping on dna extracted from tissue from the deceased sibling revealed the same SCN5A genotype. Injection of cRNA encoding the W156X mutation in xenopus oocytes did not produce any current. The R225W substitution neutralizes the third Arg residue within the voltage-sensing segment of domain I. Expression studies showed that this mutation leads to a severe reduction in I(Na) and is also associated with gating changes. Histological examination of the heart from the deceased sibling revealed changes consistent with a dilated type of cardiomyopathy and severe degenerative abnormalities of the specialized conduction system. The occurrence of compound heterozygosity for these two mutations implies that the proband carries solely severely dysfunctional cardiac Na channels. This explains his severe phenotype and that of his deceased sister who had been a carrier of the same genotype. The morphological changes within the heart of the deceased sibling may have occurred secondary to the Na channel abnormality and contributed to the severity of the disorder in this individual.- - - - - - - - - - ranking = 1keywords = fat (Clic here for more details about this article) |
6/92. cytomegalovirus infection, fetal liver disease, and neonatal hemochromatosis.Neonatal hemochromatosis is an uncommon disorder, clinicopathologically defined by severe and generally fatal liver disease of intrauterine onset associated with extrahepatic siderosis that spares reticuloendothelial elements (hemochromatotic siderosis). The agent or agents of liver disease in neonatal hemochromatosis are not known. It also is not known if intrauterine liver disease of defined infective etiology can lead to hemochromatotic siderosis. We present two patients with fetal liver disease and hemochromatotic siderosis whose cases help address these points. In the first patient rare hepatobiliary and numerous renal tubular cytomegalovirus (CMV) inclusions were found; CMV infection was confirmed by the polymerase chain reaction. Studies of the mother of the second patient 1, 5, and 9 weeks post-partum showed recent seroconversion against CMV; seroconversion against other infectious agents (toxoplasma, rubella, herpes, parvovirus B19, hepatitis a/B/C) was not present. Histologic, immunohistochemical, in situ hybridization, or polymerase chain reaction evidence of CMV infection was not present in infant tissues, even though peripartum maternal seroconversion against CMV was observed. We conclude that hemochromatotic siderosis may accompany chronic fetal liver disease of defined infective etiology (patient no. 1) and that recent maternal seroconversion against CMV in the presence of severe fetal liver disease does not necessarily mean that transplacentally acquired CMV infection caused the fetal liver disease (patient no. 2). polymerase chain reaction documentation of infective-agent genomic sequences in fetal or infant tissues permits more accurate interpretation of maternal serologic data.- - - - - - - - - - ranking = 1keywords = fat (Clic here for more details about this article) |
7/92. Studies on subcutaneous fat necrosis of the newborn.biopsy specimens from the skin and subcutaneous fat tissue of four cases with neonatal subcutaneous fat necrosis were made and investigated by light and electron microscopy at 2, 4, and 6 weeks, and 5 months (Case 2) from the onset of the disease. Three stages of ultrastructural change of fat cells were observed. The evolution of crystal formation in the fat cells was seen and phagocytosis of crystals and fat droplets by macrophages and foreign-body giant cells was also noted. In the light microscope accumulation of calcium concretions in the spaces between and inside the fat cells was found. In the electron microscope we detected foci of highly electron-dense granules, which were similar in distribution and structure to calcium salts stained with the von Kossa method. Changes in small and medium size blood vessels were observed.- - - - - - - - - - ranking = 7652.2651492846keywords = subcutaneous fat, fat (Clic here for more details about this article) |
8/92. Prolongation of the Q-T interval in a victim of sudden infant death syndrome: cause or effect?A 3-week-old infant died of sudden infant death syndrome (crib death, cot death). Although prolongation of the Q-T interval was found on an electrocardiogram taken at birth, this child appeared to have died of terminal respiratory failure as judged by a postmortem arterial oxygen tension of 4 mm Hg. The heart showed right ventricular hypertrophy, a finding consistent with chronic hypoxemia. The prolongation of the Q-T interval may have contributed to the death of this child with hypoxia predisposing to a fatal episode of ventricular fibrillation.- - - - - - - - - - ranking = 1keywords = fat (Clic here for more details about this article) |
9/92. An outbreak of pseudomonas aeruginosa pneumonia and bloodstream infection associated with intermittent otitis externa in a healthcare worker.OBJECTIVES: To investigate an outbreak of pseudomonas aeruginosa pneumonia and bloodstream infection among four neonates, determine risk factors for infection, and implement preventive strategies. DESIGN: Retrospective case finding; prospective surveillance cultures of patients, personnel, and environmental sites; molecular typing by pulsed-field gel electrophoresis; and a matched case-control study. patients AND SETTING: Neonates in the level-III neonatal intensive care unit of a tertiary-care pediatric institution. INTERVENTIONS: Cohorting of patients with positive results for P. aeruginosa, work restrictions for staff with positive results, implementation of an alcohol-based hand product, review of infection control policies and procedures, and closure of the unit until completion of the investigation. RESULTS: Seven (4%) of 190 environmental cultures and 5 (3%) of 178 cultures of individual healthcare workers' hands grew P. aeruginosa. All four outbreak isolates and one previous bloodstream isolate were genotypically identical, as were the P. aeruginosa isolates from the hands and external auditory canal of a healthcare worker with intermittent otitis externa. Four of 5 case-patients versus 5 of 15 matched control-patients had been cared for by this healthcare worker (P = .05). The healthcare worker was treated and no further cases occurred. CONCLUSIONS: These findings suggest that a healthcare worker with intermittent otitis externa may have caused this cluster of fatal P. aeruginosa infections, adding the external ear to the list of colonized body sites that may serve as a source of potentially pathogenic organisms.- - - - - - - - - - ranking = 1keywords = fat (Clic here for more details about this article) |
10/92. Selective antibody immune deficiency in a patient with smith-lemli-opitz syndrome.smith-lemli-opitz syndrome is a rare autosomal recessive disorder characterized by multiple congenital anomalies and various degrees of cognitive deficits. This condition results from a deficiency of 7-dehydrocholesterol reductase, a critical step in cholesterol biosynthesis. Children with smith-lemli-opitz syndrome have frequent infections, particularly of the respiratory tract. Immunodeficiency, however, is not recognized as a part of this metabolic condition. Frequent infections are usually attributed to a decreased patient mobility and reduced respiratory effort secondary to muscular hypotonia and mental retardation, which are often present in affected individuals. We describe a patient with smith-lemli-opitz syndrome and recurrent respiratory infections who was found to have a selective antibody deficiency. The immunological diagnosis was based on an absent immune response to Pneumovax. She also had no immunological response to hepatitis b vaccine and was unable to break down red cells with isoagglutinin B. Therapy with intravenous IgG (IVIG) was initiated. Infections were less severe, although they still occurred in a high frequency after initiation of the IVIG therapy. This finding prompts the need for a higher index of suspicion for an underlying immune deficiency in patients with smith-lemli-opitz syndrome who present with recurrent and chronic infections. Early recognition and appropriate therapeutic interventions may decrease the severity of infections, prevent potentially fatal infections, and eventually improve the quality of life in these patients.- - - - - - - - - - ranking = 1keywords = fat (Clic here for more details about this article) |
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