Miopatia nemalinowa u noworodka – opis rzadkiej choroby

Nemaline myopathy (NM) is a genetically and clinically heterogeneous muscle disorder, defined by the presence of characteristic nemaline bodies on muscle biopsy. The disease has a wide spectrum of phenotypes, ranging from forms with neonatal onset and fatal outcome to asymptomatic forms. The neonatal form is severe and usually fatal. The clinical variability, with differing age of onset and severity of symptoms makes the diagnosis difficult during infancy. There is no curative treatment. L-tyrosine may prevent aspiration by reducing pharyngeal secretions and drooling. Most of the patients die from respiratory and cardiac failure. This article discusses a newborn infant who presented with generalized weakness and respiratory failure. Partial response to L-tyrosine treatment was noted. The case is worth presenting to remind clinicians of congenital myopathies in the differential diagnosis of floppy infant during neonatal period and to emphasize the importance of muscle biopsy in diagnosis.Miopatia nemalinowa jest schorzeniem mięśni, niejednorodnym pod względem genetycznym i klinicznym. Chorobę cechuje obecność charakterystycznych struktur nemalino-wych w bioptacie mięśnia. Fenotyp jest bardzo zróżnicowany i obejmuje zarówno postacie noworodkowe prowadzące do zgonu, jak i postacie bezobjawowe. Postać noworodkowa przebiega ciężko i zwykle kończy się śmiercią. Zmienność kliniczna, łącznie ze zróżnicowanym wiekiem w chwili wystąpienia objawów i z różnym ich nasileniem, może utrudniać rozpoznanie w wieku niemowlęcym. Choroba jest nieuleczalna. Podawanie L-tyrozyny może zapobiec zachłyśnięciu poprzez zmniejszenie produkcji wydzieliny w gardle i śliny. Większość chorych umiera z powodu niewydolności oddechowej i krążenia. W artykule omówiono przypadek noworodka z uogólnionym niedowładem i niewydolnością oddechową. Reakcja na podawanie L-tyrozyny była częściowa. Przedstawiony opis przypadku ma na celu przypomnienie klinicystom o miopatiach wrodzonych, które należy uwzględniać w rozpoznaniu różnicowym zespołu wiotkiego dziecka w okresie noworodkowym, oraz podkreślenie znaczenia biopsji mięśnia w ustalaniu rozpoznania

A Histologically Diagnosed Case with Infantile Osteopetrosis Complicated by Hypopituitarism

Malignant infantile osteopetrosis is a rarely seen severe disorder which appears early in life with general sclerosis of the skeleton. It is caused by functionally defective osteoclasts which fail to resorb bone. Affected infants can exhibit a wide spectrum of clinical manifestations including impaired hematopoiesis, hepatosplenomegaly, visual impairment, and hypocalcemia. With the exception of secondary hyperparathyroidism, involvement of the endocrine system seems to be quite rare. Hypopituitarism is defined as underproduction of the growth hormone in combination with deficiencies of other pituitary hormones. Any lesion that damages hypothalamus, pituitary stalk, or anterior pituitary can cause secondary hypopituitarism. In this report, we presented a rare combination of malignant infantile osteopetrosis and secondary hypopituitarism in a newborn who presented predominantly with endocrinological symptoms. This is the first case report of malignant infantile osteopetrosis accompanied by hypopituitarism secondary to sclerosis of the sella turcica. On the other hand, this is a very interesting case which was diagnosed based on histological examination of bone marrow biopsy specimens despite lack of any clinical suspicion

Is there a relationship between maternal periodontitis and pre-term birth? A prospective hospital-based case-control study

Objective. The aim of this study is to verify the existence of an association between maternal periodontal disease and pre-term delivery in an unselected population of post-partum Turkish women. Materials and methods. This case-control study was conducted on 100 women who gave birth in either a special or a government maternity hospital. The case group consisted of 50 mothers who had delivered an infant before 37 weeks' gestation and weighed under 2500 g. The control group included 50 mothers who had given birth to an infant with a birth weight of more than 2500 g and a gestational age of >= 37 weeks. Data of mothers and infants were collected using medical registers and questionnaires. Clinical periodontal examinations were carried out in six sites on every tooth in the mother's mouth. A participant who presented at least four teeth with one or more sites with a PPD >= 4 mm and CAL >= 3 mm at the same site was considered to have periodontal disease. Statistical methods included parametric and non-parametric tests and multiple logistic regression analysis. Results. There were no statistically significant differences between the cases and controls with regard to periodontal disease and pre-term delivery (OR = 1.48; 95% CI = 0.54-4.06). Conclusion. The findings indicated that maternal periodontitis was not a possible risk factor for pre-term delivery. Further studies with additional clinical trials are needed to explore the possible relationship between periodontal disease and pre-term birth

The metabolic etiology of urolithiasis in Turkish children

Pediatric urolithiasis is an endemic disease, especially in certain developing regions of the world, such as the Far East, and to a certain extent the Middle East and Turkey. The aim of the study is to determine the metabolic etiology and the prevalence of formation of urinary calculi in Turkish pediatric patients with urolithiasis. Seventy-two pediatric patients diagnosed as having urolithiasis were studied from 1999-2005 in Dr. Behcet Uz Child Disease and Surgery Education and Research Hospital Nephrology Department, Izmir, according to their presenting signs and clinical and laboratory findings. The other necessary tests were also applied to detect the etiology of the calculi formation. Of the 72 patients, 50 (69.4%) were male and 22 (30.6%) were female, with ages ranging from 2 to 168 months (mean age 72 +/- A 35.7 months), and the male-to-female ratio of patients was 2.3. Twenty-four (33%) of them were diagnosed as having metabolic urolithiasis, 21 (30%) anatomic, 19 (26%) infectious and 8 (11%) idiopathic. The age at which urolithiasis was first diagnosed was found to be low in the metabolic and anatomic etiology groups (P = 0.028). Thirteen patients (18%) with urolithiasis were known to have a family history of stone disease, and in all of them metabolic etiology was considered to be the reason (P < 0.001). In all of the groups, the localization of the stone was found to be the upper urinary system most of the time, and in 17 (24%) with bilateral multiple stones, the etiology was found to be metabolic (P < 0.001). All of the patients were followed up for 3-72 months (mean 29.2 +/- A 13.7 months), and four of them (5.5%) had recurrences. In order to prevent renal damage and recurrences in pediatric patients with urolithiasis in Turkey in whom the etiology is mostly metabolic, the illnesses must be investigated very cautiously, and their early diagnosis and treatment modalities must be considered

Hypernatremic Dehydration Risk Factors in Newborns: Prospective Case-Controlled Study

Zusammenfassun

A Histologically Diagnosed Case with Infantile Osteopetrosis Complicated by Hypopituitarism

Malignant infantile osteopetrosis is a rarely seen severe disorder which appears early in life with general sclerosis of the skeleton. It is caused by functionally defective osteoclasts which fail to resorb bone. Affected infants can exhibit a wide spectrum of clinical manifestations including impaired hematopoiesis, hepatosplenomegaly, visual impairment, and hypocalcemia. With the exception of secondary hyperparathyroidism, involvement of the endocrine system seems to be quite rare. Hypopituitarism is defined as underproduction of the growth hormone in combination with deficiencies of other pituitary hormones. Any lesion that damages hypothalamus, pituitary stalk, or anterior pituitary can cause secondary hypopituitarism. In this report, we presented a rare combination of malignant infantile osteopetrosis and secondary hypopituitarism in a newborn who presented predominantly with endocrinological symptoms. This is the first case report of malignant infantile osteopetrosis accompanied by hypopituitarism secondary to sclerosis of the sella turcica. On the other hand, this is a very interesting case which was diagnosed based on histological examination of bone marrow biopsy specimens despite lack of any clinical suspicion

Is there a relationship between platelet parameters and patency of ductus arteriosus in preterm infants?

Postnatal closure of the ductus arteriosus is a complicated two-phase process involving functional and structural changes. So far, the precise mechanisms regulating this process are not fully understood. A growing body of evidence from recent studies suggests that platelets play a key role in inflammatory processes including ductal closure via interaction with endothelial cells. The aim of this study is to assess whether a relationship exists between the occurrence and/or closure of hemodynamically significant ductus arteriosus (HSDA) and platelet parameters (platelet count, circulating platelet mass, mean platelet volume, platelet distribution width) in preterm newborns. This single-center, retrospective study included 824 premature infants between 24 and 34 gestational weeks, evaluated by echocardiography at postnatal 72-96 h. Infants with and without HSDA (nU208 vs. nU616) were compared in terms of platelet parameters recorded within the first 3 days of life. Oral or intravenous ibuprofen was commenced for medical treatment, and echocardiography was repeated 24 h thereafter to determine ductal closure. No statistically significant difference could be demonstrated between the groups in terms of baseline platelet parameters. HSDA was independently associated with early-onset neonatal sepsis. Thrombocytopenia, low circulating platelet mass, high platelet distribution width, or high mean platelet volume could not be demonstrated as a risk factor for HSDA. None of the platelet parameters had an influence on ductal closure after medical treatment. Unlike most reports in the literature, presence of HSDA was not associated with any platelet parameter in our study. We could not demonstrate an association between any platelet parameter and either persistence or closure after medical treatment. Copyright (C) 2017 Wolters Kluwer Health, Inc. All rights reserved

Role of Digoxin-Like Immunoreactive Substance in the Pathogenesis of Transient Tachypnea of Newborn

WOS: 000321861300001PubMed ID: 23936837Background. Transient tachypnea of newborn (TTN) is usually observed in term or near-term infants. It constitutes an important part of the respiratory distress cases observed in the neonatal intensive care unit (NICU). Aim. This paper examines the effects of digoxin-like immunoreactive substance (DLIS) on fluid and ion balance, hemodynamic and echocardiographic parameters of neonates with TTN. Methods. Plasma DLIS, Na+, K+, urea, creatinine, serum and urine osmolarity, urine FeNa+, 24-hour urine output, echocardiographic investigation and mean blood pressure, and clinical parameters of disease severity were recorded in TTN group and compared with control on the 1st and 7th days of their lives. Results. Plasma DLIS levels were statistically higher in TTN group (0.66 +/- 0.37 ng/mL) compared to control group (0.24 +/- 0.20 ng/mL) both on the 1st day (P < 0.01) and the 7th day (P < 0.05). For TTN group, significant correlation was found between plasma DLIS levels and maximum respiratory rate, duration of tachypnea, and length of hospitalization on the 1st day. Plasma DLIS levels were correlated negatively with serum osmolarity levels. Plasma DLIS levels were positively correlated with urine output, urinary FeNa+ levels, cardiac output, left ventricles end diastolic diameters, and right ventricles end diastolic diameters. Conclusions. Increased DLIS levels were correlated with disease severity in cases with TTN. This increase may be a primary or secondary event in the disease progress. It may help reduce the fluid overload due to already disturbed cardiac functions in patients by increasing urine output and natriuresis; however it may also contribute to disease pathogenesis, by inhibiting alveolar Na+-K+-ATPase which further decreases fetal alveolar fluid resorption

Vein of Galen aneurysm in a newborn baby

WOS: 000310402100040Although vein of Galen aneurysm is a rare pathology, it is the most common form of symptomatic cerebrovascular malformation in neonates and infants. Advanced high flow intracerebral shunt may cause high-flow congestive heart failure depending on an increase in the volume accompanied by different levels of pulmonary hypertension. Unfortunately, the prognosis is poor particularly in newborns with heart failure findings. Surgery and arterial embolization are only partially successful in controlling flow through Galenic fistulas. However, in parallel to the improvements in endovascular embolization techniques and the innovations in the newborn intensive care practices, major developments in controlling congestive heart failure and pulmonary hypertension have been achieved. In this article, we report a newborn case who presented with severe high-flow congestive heart failure and was diagnosed with the vein of Galen malformation. The case was found worth presenting to remind clinicians the vein of Galen malformation in the differential diagnosis of severe congestive heart failure and persistent, treatment refractory pulmonary hypertension at systemic/suprasystemic level during neonatal period. It is also of utmost importance to emphasize the role of embolization into abnormal feeding arteries as an alternative treatment of choice

Effect of Adventitial Dissection in Brachiobasilic Arteriovenous Fistulae Opened in Children as Vascular Access for Hemodialysis on Patency and Maturation of Fistulae

Background: Recently, therapy of pediatric patients with chronic renal failure has been carried out using hemodialysis, peritoneal dialysis, or renal transplant. In this study, we prospectively investigated the role of adventitial dissection (performed on brachiobasilic arteriovenous fistulae in the antecubital area) in the patency rate, maturation, and early initiation of dialysis among pediatric cases undergoing chronic hemodialysis