1/107. Chronic intrauterine meconium aspiration causes fetal lung infarcts, lung rupture, and meconium embolism.Three neonates with chronic intrauterine meconium aspiration are reported. All had distinctive subpleural plate-infarcts of the lungs caused by meconium-induced vasoconstriction of peripheral preacinar arteries. These vessels showed plexogenic arteriopathy with medionecrosis and obliterative hyaline sclerosis. Organized thrombi and systemic-pulmonary arterial anastomoses were numerous. The infarcts contained inspissated meconium with a granulomatous reaction.In one case, lung rupture occurred, causing meconiumthorax and meconium embolism to hilar lymphatics and lymph nodes; this suggests that particulate meconium may enter the circulation. This fetus had rubella and probable acute twin-twin transfusion following the intrauterine death of the co-twin. The cause of the hypoxia that led to intrauterine passage of meconium in the other cases is unknown. meconium-stained amniotic fluid was noted in only one case.- - - - - - - - - - ranking = 1keywords = hypoxia (Clic here for more details about this article) |
2/107. Postoperative mycobacterium avium osteomyelitis confirmed by polymerase chain reaction.An 18-year-old male with Escobar syndrome developed mycobacterium avium osteomyelitis after corrective osteotomy. After three surgical interventions the infection reappeared a fourth time. Repeated attempts at microbiological diagnosis of the granulomatous lesions by microscopy and culture for conventional bacteria and Mycobacteria did not reveal any organism. The diagnosis of mycobacterium avium finally was achieved by polymerase chain reaction. Extensive immunological work-up did not reveal signs of immunodeficiency. The patient was treated successfully by a combined surgical and chemotherapeutic approach consisting of clarithromycin, ethambutol and ciprofloxacin. CONCLUSION: polymerase chain reaction may be especially useful for clinical situations with a low bacterial load, especially for fastidious and slow growing pathogens like Mycobacteria. In our patient a combination of surgical therapy with a triple regimen containing clarithromycin proved successful for treatment of a localised infection with M. avium in a supposedly immunocompetent host.- - - - - - - - - - ranking = 2.9296790596308keywords = deficiency (Clic here for more details about this article) |
3/107. central nervous system in twin reversed arterial perfusion sequence with special reference to examination of the brain in acardius anceps.The twin-reversed arterial perfusion (TRAP) sequence, or acardia, is the most severe complication in monozygotic twinning. Although more than 400 cases with TRAP sequence were reported since 1533, thorough investigations of the brain in those cases with a rudimentary head remained infrequent. We report a TRAP sequence with microcephaly and a severely rudimentary brain anlage. Neuropathologic examination clearly demonstrated two types of change: (1) developmental arrest of brain at the prosencephalic stage (holoprosencephaly), and (2) hypoxic damage to the holospheric brain mantle with cystic change (hydranencephaly). With reference to previous studies in experimental animals showing that lack of oxygen during early embryogenesis can induce severe disruptions of head-brain and heart formation, it is concluded that oxygen deficiency due to TRAP may be responsible not only for the encephaloclastic changes in the acardius anceps, but for the developmental arrest of the brain cases as well. This would make it unnecessary to postulate additional primary causes such as asymmetric zygote cleavage (Schwalbe, '07) for the maldevelopment.- - - - - - - - - - ranking = 3.000560327008keywords = deficiency, oxygen (Clic here for more details about this article) |
4/107. Aromatic L-amino acid decarboxylase deficiency: an extrapyramidal movement disorder with oculogyric crises.Aromatic L-amino acid decarboxylase (AADC) deficiency results in an impaired synthesis of catecholamines and serotonin, and has been reported only in two middle eastern families. We report on a European family with an affected child. The child showed the characteristic clinical picture of an extrapyramidal movement disorder, oculogyric crises and vegetative symptoms seen in the three patients described previously. Treatment with a combination of the AADC cofactor pyridoxine, the monoamine oxidase B inhibitor selegiline and bromocriptine was started during the fifth year of life and showed only a moderate clinical improvement in contrast to patients who have been treated since the first year of life.- - - - - - - - - - ranking = 14.648395298154keywords = deficiency (Clic here for more details about this article) |
5/107. Unusual respiratory response to oxygen in an infant with repetitive cyanotic episodes.High inspired oxygen concentrations have recently been recommended to control cheyne-stokes respiration in adults, with the intention of averting periodic apnea and its attendant arterial desaturation. We report a case study on an infant presenting with recurrent apnea and cyanosis in which oxygen treatment led to a gross form of respiratory instability we call episodic breathing, in which a breathing phase of 60 to 90 s alternated with an apnea lasting up to 60 s. When oxygen was discontinued, a profound arterial desaturation developed before breathing recommenced and restored oxygen levels. We propose that episodic breathing is an unusual respiratory pattern that involves the central chemoreceptors and results from the ventilatory threshold (the central PCO(2) at which breathing starts) lying considerably above the apneic threshold (the central PCO(2 )at which breathing stops). This feature predisposes to lengthy periods of hyperpnea alternating with lengthy periods of apnea. We suggest that when the case infant returned to air during episodic breathing, termination of apnea was entirely dependent upon carotid body activity, which reached a sufficient level to restart breathing only when arterial desaturation was severe. We conclude that oxygen therapy involves potential risks when employed to treat respiratory disorders involving unstable breathing patterns in the infant.- - - - - - - - - - ranking = 0.31896570319711keywords = oxygen (Clic here for more details about this article) |
6/107. glucose-6-phosphate dehydrogenase deficiency-induced hemolysis in newly diagnosed diabetic monozygotic twins.A pair of monozygotic male twins are described who manifested hemolysis at the concurrent onset of diabetes type 1. hemolysis appeared progressively following the correction of hyperglycemia and ketoacidosis (one twin). It was found to be related to unknown glucose 6-phosphate dehydrogenase (G-6-PD) deficiency. Other causes of hemolysis such as drugs or bacterial infection were excluded. The fall in glucose availability after the correction of hyperglycemia is proposed as a possible explanation for hemolysis.- - - - - - - - - - ranking = 14.648395298154keywords = deficiency (Clic here for more details about this article) |
7/107. Neonatal intestinal perforation caused by congenital defect of the small intestinal musculature: report of one case.Congenital defect of the small intestinal musculature is a rare cause of neonatal spontaneous intestinal obstruction or perforation. Its etiology and pathogenesis are still controversial. A male infant presented with intestinal obstruction at two days of age and rapidly progressed to perforation and septic shock. He died at seven days of age. autopsy finding revealed a perforation hole at twenty-five cm proximal to ileocecal valve. histology examination demonstrates multifocal deficiency of the inner circular muscle layer three cm around the perforation site. The clinical and histological characteristics are reviewed and discussed. We propose that the muscle defect of small intestine, especially ileum, is secondary to ischemic injury rather than an embryological malformation.- - - - - - - - - - ranking = 2.9296790596308keywords = deficiency (Clic here for more details about this article) |
8/107. The ex utero intrapartum treatment procedure for a large fetal neck mass in a twin gestation.BACKGROUND: Large fetal neck masses can make it difficult or impossible to secure airways at birth, with associated risks of hypoxia, brain injury, and death. Based on a medline search from 1966 to June 1998, using the keywords EXIT procedure, placental support, twins, and neck mass, we report the first ex utero intrapartum treatment procedure performed in a twin gestation complicated by a large fetal neck mass. CASE: A giant fetal cervical mass was diagnosed in one fetus of a 20-week twin gestation by sonography and magnetic resonance imaging. At 35 weeks' gestation, the ex utero intrapartum treatment procedure was performed successfully for delivery of the normal twin, followed by intrapartum airway access of the twin with the neck mass. CONCLUSION: Even in twin gestations, the ex utero intrapartum treatment procedure is the delivery method of choice for fetuses with giant neck masses.- - - - - - - - - - ranking = 1keywords = hypoxia (Clic here for more details about this article) |
9/107. Prune-belly syndrome: therapeutic options including in utero placement of a vesicoamniotic shunt.The prune-belly syndrome (PBS) consists of abdominal wall distention with deficiency of the abdominal wall musculature, urinary tract abnormalities, and cryptorchidism. The impaired drainage of the bladder leads to oligohydramnios and pulmonary hypoplasia. We present 4 cases of PBS diagnosed by prenatal sonography. In 2 cases, vesicoamniotic shunt therapy was not indicated because of a poor prognosis based on sonographic and laboratory findings; the pregnancies were terminated. In another case, treatment was not performed because of a twin pregnancy, and the neonate with PBS died the day of delivery by cesarean section at 31 weeks' menstrual age. In the other case, vesicoamniotic shunt therapy was successfully performed, and a healthy child was delivered. Several conditions must be met for vesicoamniotic shunt therapy to have a good chance of success: the karyotype must be normal, other malformations must be excluded by careful sonographic examination, and renal function must be normal, as determined by serial analyses of fetal urine. Generally, the shunt should be inserted as early as possible.- - - - - - - - - - ranking = 2.9296790596308keywords = deficiency (Clic here for more details about this article) |
10/107. Humoral immunodeficiency with facial dysmorphology and limb anomalies: a new syndrome.We report a 6 year old girl with an isolated humoral immune deficiency and a unique combination of dysmorphic features. Physical findings include microcephaly, micrognathia, sickle shaped eyebrows, hypoplastic alae nasi, thenar hypoplasia, partial 4-5 syndactyly of toes, recessed great toes, anterior anus, and hypoplastic labia minora. Radiographic findings include triphalangeal thumbs and hypoplastic first metatarsals. She has postnatal growth retardation and her development is substantially slower than her twin's. Her clinical course has been complicated by recurrent sinopulmonary infections and pneumococcal bacteraemia. Laboratory evaluation revealed hypogammaglobulinaemia, absent B cells, and a 46,XX karyotype. A review of the literature and the london Dysmorphology database did not produce any recognizable syndromes that match her constellation of findings. She may represent a unique syndrome of unknown etiology.- - - - - - - - - - ranking = 14.648395298154keywords = deficiency (Clic here for more details about this article) |
| | Next -> |