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 7,134 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two different conditions are contrasted: mucosal prolapse in children aged between 2 and 5 years and total prolapse, which is very rare. Mucosal prolapse has become very rare in industrialised countries because of the excellent improvement in nutrition since the war, while this remains a very serious condition in under-developed countries. It is rapidly cured, provided the therapeutic errors are avoided, in particular cerclage. Sclerosis with quinine-urea is indicated in this situation. The various causes are discussed: in particular, the abnormal fixation of the rectum and the absence of the sacral curvature. The predisposing factors are essentially prolonged time spent on the pot, constipation and prolonged diarrhoea and, most importantly, malnutrition and prematurity. Total prolapse in very rare; it is about 15 centimetres long curved posteriorly and often incoercible. It occurs in younger infants and even neonates. It is often irreducible and therefore requires surgery in certain cases. It frequently disappears after the age of 8 years. There are a number of very different causes, not only malnutrition and prematurity and, in this clinical context, strain plays an important role and may be due to a vesical or urethral stone or to a congenital abnormality of these organs, but also abnormalities of the rectal segment with disorders of innervation, connective tissue diseases, any diseases affecting the internal sphincter, in particular congenital abnormalities. Abnormalities of the intrinsic rectal innervation with loss of sensitivity are frequent and can be due to denervations caused by a surgical operation (Hirschsprung's operation, for example). Abnormalities of the baso-receptors have also been observed.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Anal prolapse in the child]. 409 98

Neonatal diabetes mellitus is a rare (1/400 000 newborns) but potentially devastating condition, which may be transient or permanent; typical symptoms occur within the first 4 wk of life. The transient form is a developmental insulin production disorder that resolves postnatally. Fifty to 60% of cases can be seen as transient form. Cases that require lifelong insulin therapy can be described as permanent condition. This fraction of cases is less common than the transient form. There are no clinical features that can predict whether a neonate with diabetes mellitus but no other dysmorphology will eventually have permanent neonatal diabetes mellitus (PNDM) or transient neonatal diabetes mellitus. Some metabolic or genetic defects such as complete deficiency of glucokinase or heterozygous activating mutations of KCNJ11, encoding Kir6.2, were found in patients with PNDM. A preterm female infant with a gestational age of 36 wk was admitted to the neonatal intensive care unit in the first hours of life due to prematurity and intra-uterine growth retardation. She was diagnosed as having arthrogryposis multiplex congenita on the first day. Hyperglycemia was detected on the third day of life, and she required insulin treatment. The patient is now 6 yr old with PNDM, arthrogryposis multiplex, neurogenic bladder, immune deficiency, constipation, and ichthyosis. Is this a new form of neonatal diabetes mellitus?
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PMID:Permanent neonatal diabetes with arthrogryposis multiplex congenita and neurogenic bladder - a new syndrome? 1705 50

Rarely in the history of medicine has an X-linked mental retardation syndrome so thoroughly entered every branch of medicine, at least of pediatrics, but also of internal medicine, on account of its protean manifestations. In such countries as Zambia, malaria, tuberculosis, HIV, and other infections diseases, and many environmental and nutritional disorders still top the list of childhood morbidity and mortality. However, in the more developed nations of the Old and New Worlds, prematurity, birth defects, and genetic conditions constitute the major burden of infant mortality adn chronic childhood handicaps. One of the most pervasive of these is the group of FG syndromes seen in every pediatric clinic and mental health service. Thus, in our experience FGS emerges as the most common yet the least known developmental disabilities condition in our society. FGS imposes a tremendous burden of morbidity, and to some extent also of mortality, on society and families. After successful neonatal adaptation, such recurring problems as otitis, reactive airway disease, and constipation can be routinely treated symptomatically. However, the neurodevelopmental burden represents the greatest challenge that FGS presents for families and to society. Under the best of circumstances, motor and speech development catch up. However, virtually all FGS children, boys and girls, have difficulties in psychologic development, school performance, and ultimate emotional adaptation to adult life and social integration. The many such cases added to those with outright psychiatric disturbances are overwhelming social, psychologic, and psychiatric services and, above all, public and private school systems, which are understaffed, under-funded, beyond formulating individual educational plans, and helpless to deal with the enormous burden of special service needs of these children. It's time that handicapped children receive care according to needs and not according to diagnosis. However, the near absence of information on FGS available to these professionals is a handicap in arriving at a specific diagnosis (allowing state and federal support for special services) and in understanding the prognosis, natural history, and such complications as "autism," seizures, and tethered cord that affect the child's success at home, in school, and out in society. The FGS parent support group has been of enormous help in informing families about all of these "issues," and to this day remains the greatest repository of knowledge on FGS. As they say in baseball, it is time at long last for the professionals "to step up to the plate."
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PMID:The FG syndromes (Online Mendelian Inheritance in Man 305450): perspective in 2008. 1904 30

The literature review for 2009 covers the principal themes of the speciality and brings new findings in the fields of pathophysiology, clinical features, therapeutical approaches. With regards to atopic dermatitis, we noticed new studies on potential inducing factors (breastfeeding, probiotics, food, vitamins, prematurity, Staphylococcus aureus and constipation). There are also new data on therapy using tacrolimus. With regards to vascular anomalies and especially haemangiomas, the literature comprises new data on evolution and efficacy of propranolol. With regards to congenital nevi, there are studies related to treatment and complications. With regards to warts, the literature brings news about virus transmission and therapy. With regards to genodermatosis (neurofibromatosis type I, cutis laxa, pseudoxanthoma elasticum, epidermolysis bullosa, ichtyoses and pilar diseases), we found novel facts in the fields of molecular analysis, clinical aspects, pathophysiology and quality of life. The literature in 2009 also contains studies on Lyell syndrome, Kawasaki disease, vitiligo, psoriasis, pityriasis rubra pilaris, urticaria and alopecia areata.
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PMID:[What's new in pediatric dermatology?]. 2011 58

Landmark studies have established taxanes in the treatment of patients with breast cancer; however, recommendations regarding their administration during pregnancy are controversial. The present systematic review aims to synthesize all available data that stem exclusively from breast cancer case series to evaluate the efficacy and safety of taxanes during pregnancy. Overall, 16 studies (50 pregnancies) were eligible for the systematic review according to prisma guidelines. The mean age of patients with breast cancer at pregnancy was 34.6 years. The gestational age (GA) at chemotherapy administration varied from 12 to 36 weeks. The mean GA at delivery was 35.9 weeks. The mean weight of babies at delivery was 2380 g. In 76.7% of cases, a completely healthy neonate was born; in the remaining cases, a neonate who was dystrophic and premature, one with mild hydrocephalus, one with signs of bacterial sepsis, one with hyperbilirubinemia, one with apnea of prematurity, respiratory distress syndrome and gastroesophageal reflux, one with meconium-stained fluid, and another neonate with neutropenia and pyloric stenosis were reported. Ninety percent of children were completely healthy, with a median follow-up of 16 months; in the remaining cases, one child with recurrent otitis media, one with immunoglobulin A deficiency and mild constipation, and another child with delayed speech were reported. In conclusion, available data suggest that taxanes may potentially play a promising role in the optimal therapeutic strategy of patients with breast cancer diagnosed during pregnancy.
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PMID:Taxanes for breast cancer during pregnancy: a systematic review. 2312 38

Antenatal Bartter syndrome is a rare condition that can present with different clinical features. These features include early onset maternal polyhydramnios, failure to thrive, prematurity and nephrocalcinosis.We are presenting this 20-day-old girl who had an antenatal history of polyhydramnios. She developed persistent non-bilious vomiting that was associated with constipation soon after birth. She presented with failure to thrive and features suggestive of intestinal obstruction. On the initial evaluation, she was noted to have hypokalaemic, hyponatraemic metabolic alkalosis. The initial work-up was done to exclude surgical and renal causes of her presentation, and the diagnosis was confirmed by gene analysis to be type III-classic Bartter syndrome. She was closely monitored for her growth and development with the appropriate salt replacement therapy.
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PMID:Antenatal Bartter syndrome presenting with vomiting and constipation mimicking subacute intestinal obstruction in a 20-day-old neonate. 2914 24