Familial Hemophagocytic Lymphohistiocytosis With Heterozygous STX11 and Homozygous UNC13D Mutations Diagnosed in the Neonatal Period.

Patients with primary hemophagocytic lymphohistiocytosis may present with different mutations and phenotypic findings. It is usually presented as case reports because of its rare occurrence. Here, we discuss a case diagnosed with familial hemophagocytic lymphohistiocytosis 3, that presented in the neonatal period and was detected to have homozygous UNC13D and heterozygous STX11 mutations.

Sedoanalgesia modality during laser photocoagulation for retinopathy of prematurity: Intraoperative complications and early postoperative follow-up.

BACKGROUND: Laser photocoagulation (LPC) is a surgical procedure used in the treatment of premature retinopathy that may cause retinal detachment and blindness if not diagnosed and treated early. The anesthesia method used in LPC varies from sedoanalgesia to general anesthesia and airway management varies from spontaneous ventilation to endotracheal intubation. In this study, we aimed to evaluate the effectiveness of sedoanalgesia applications and this anesthesia procedure concerning intraoperative and postoperative complications by avoiding intubation and mechanical ventilation in premature infants with a fragile population. METHODS: This retrospective study included 89 patients who underwent laser photocoagulation under anesthesia for premature retinopathy. Patients' demographic characteristics, preoperative risk factors, anesthesia technique, especially airway management, changes in ventilation status during surgery, intraoperative complications, postoperative complications, and intensive care follow-up, were recorded and analyzed statistically. RESULTS: Two of the 89 patients who underwent laser photocoagulation were excluded from this study because they were followed up intubated. The number of patients who received mask ventilation due to intraoperative complications was 12 (13.8%). The mean operation time was 36.2±10.1 minutes. In 86.2% (n=75) of the patients, the surgical procedure was completed with sedoanalgesia while maintaining spontaneous ventilation. CONCLUSION: Sedoanalgesia application during the surgical intervention of patients with Retinopathy of Prematurity (ROP) requiring early diagnosis and emergency treatment will minimize intraoperative and postoperative complications. We believe that sedoanalgesia as an anesthetic method can be applied as an effective alternative method while preserving spontaneous ventilation.

Covalent immobilization of Aspergillus niger amyloglucosidase (ANAG) with ethylenediamine-functionalized and glutaraldehyde-activated active carbon (EFGAAC) obtained from sesame seed shell.

This study was aimed the covalently immobilization of Aspergillus niger amyloglucosidase (ANAG) onto activated carbon (AC) obtained from sesame seed shell. AC was firstly functionalized with ethylenediamine, and after then activated with glutaraldehyde. 99.80% immobilization yield and 99.83% activity yield were obtained as the result of optimization of immobilization conditions (pH and molarity of immobilization buffer, AC amount, and reaction time). The optimum pH (5.5) and the optimum temperature range (55-60 °C) for ANAG were not affected by immobilization. After immobilization, Vmax value decreased from 1464.1 µmol D-glucose/L.min to 1342.3 µmol D-glucose/L.min, while Km value decreased from 116.3 g maltodextrin/L to 109.9 g maltodextrin/L. The immobilized enzyme retained 99.30% and 98.30% of its initial activity, respectively after twenty repeated uses and after twenty days of storage in 5 mL sodium phosphate buffer (0.1 M, pH 5.5) at +4 °C in a refrigerator. Finally, glucose syrup was produced from maltodextrin solution having 1% (w/v) concentration by using the immobilized ANAG. Maltodextrin was completely converted to glucose after four hours. Consequently, it can be said that the immobilized ANAG obtained in this study can be used in the industrial production of glucose syrup.

An Acute Complication of Ventriculoperitoneal Shunt with Bladder Perforation and Extrusion through the Urethra in a Newborn: Case Report and Review of the Literature.

Ventriculoperitoneal shunt (VPS) surgery is a standard procedure for the management of hydrocephalus. Bladder perforation is an extremely rare complication of VPS surgery. Herein, we present for the first time an acute complication of VPS with bladder perforation and extrusion through the urethra in a newborn. We also reviewed the complication of VPS with bladder perforation as reported in the literature.

Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4).

Epidermolysis bullosa (EB) is a group of inherited blistering skin diseases that vary widely in their pathogenesis and severity. It has been divided into distinct subtypes depending on the level of tissue separation in the dermal- epidermal basement membrane zone. There are four main categories of EB: simplex, junctional, dystrophic and Kindler syndrome. Junctional epidermolysis bullosa with pyloric atresia (JEB-PA) is a rare autosomal recessive form and characterized by severe mucocutaneous blisters and gastric outlet obstruction. Most of the mutations in JEP-PA are associated with the α6ß4 integrin genes (ITGA6, ITGB4,). Herein, we present a female newborn with lethal JEB-PA caused by a novel beta4 integrin mutation.

Urinary tract infections in neonates with jaundice in their first two weeks of life.

BACKGROUND: Hyperbilirubinemia is a frequently seen condition in neonates. This study was undertaken to determine the role of urinary tract infections (UTIs) in the etiology of indirect hyperbilirubinemia in neonates with jaundice in their first two weeks of life. METHODS: The study was conducted prospectively. The subjects were neonates aged 4-14 days with hyperbilirubinemia which could not be detected by routine tests and was sufficiently severe to necessitate phototherapy. RESULTS: The study was performed in 104 neonates, of whom 18% (n=19) had UTI. The most frequently identified micro-organism was Escherichia coli (43%). Phototherapy duration and rebound bilirubin level were higher in neonates with UTI (P<0.05). CONCLUSION: UTI should be investigated in neonates with hyperbilirubinemia of unknown etiology in the first two weeks of life.

Neonatal hemochromatosis: a case report with unique presentation.

Acute liver failure (ALF) is a relatively rare condition in neonates, and early diagnosis and treatment are crucial for the treatable conditions. Neonatal hemochromatosis (NH) is a rare clinical condition that is clinically defined as severe neonatal liver disease associated with hepatic and extrahepatic iron deposition in a distribution similar to that seen in hereditary hemochromatosis. Although a few cases have been reported with spontaneous remission, early and aggressive medical treatment is essential for improving the outcome. Despite aggressive treatment, some patients may require liver transplantation. We report a five-day-old male infant with NH and associated Duarte variant galactosemia, renal tubulopathy and hypertyrosinemia, who was successfully treated with combination medical treatment. Combination therapy may reduce the need for liver transplantation in infants with NH. Early diagnosis and aggressive treatment are important as in galactosemia or tyrosinemia for the outcome. Thus, NH may be listed as a treatable cause of ALF in neonates.

Adrenal hemorrhage in newborns: a retrospective study.

BACKGROUND: Adrenal hemorrhage (AH) is a relatively uncommon condition in neonates. This study aimed to review the clinical, laboratory and ultrasonographic findings of AH in newborns. METHODS: The medical records of 13 newborns with AH who had been admitted to our neonatal intensive care unit were retrospectively reviewed. RESULTS: Of the 13 newborns with AH, 8 (62%) were term and 10 (77%) were male babies. Clinical presentations included neonatal jaundice (85%), paleness and/or flank mass (38%), discoloration of the scrotum (15%), and hypotonia/lethargy or hypotension (8%). Five newborns had anemia and four had adrenal insufficiency. Adrenal insufficiency was observed in 80% of the premature infants with AH. AH occurred on the right side in 9 patients (69%). The most predisposing cause of AH was disseminated intravascular coagulation secondary to sepsis or perinatal hypoxia in preterm infants, and large for gestational age in term infants. Ultrasonography (USG) revealed a hypoechoic mass in 7 newborns (54%), a mixed solid-liquid mass in 5 (38%), and an echogenic mass (8%) in 1. Hemorrhage disappeared within 8.6 ± 4.5 (4-16) weeks. CONCLUSIONS: AH occurs in the newborns with unexplained jaundice. Adrenal insufficiency is more frequent in preterm than in mature infants. Abdominal USG is required to determine AH in a newborn with swelling and bluish discoloration of the scrotum. Serial USG is the best modality for monitoring AH to prevent unnecessary surgery.

A Turner syndrome case associated with anal atresia, interrupted aortic arch and multicystic dysplastic kidney.

Although renal and cardiac malformations are commonly seen in Turner syndrome (TS), anorectal malformations, multicystic dysplastic kidney and interrupted aortic arch are quite rare in TS. A newborn with TS with three quite rare congenital malformations (imperforate anus/anal atresia associated with rectovestibular fistula, interrupted aortic arch, and multicystic dysplastic kidney) is presented.

Intravenous amiodarone used alone or in combination with digoxin for life-threatening supraventricular tachyarrhythmia in neonates and small infants.

OBJECTIVES: The purpose of this study was to report the efficacy of intravenous amiodarone alone or in combination with digoxin in neonates and small infants with life-threatening supraventricular tachyarrhythmia (SVT). METHODS: We retrospectively analyzed 9 neonates and small infants with life-threatening or resistant SVT who were treated with intravenous amiodarone alone or in combination with digoxin. RESULTS: This report consists of 8 patients with reentrant SVT and 1 with atrial flutter. On admission, 7 patients had a congestive heart failure and 3 of whom had cardiovascular collapse. Intravenous rapid bolus of adenosine caused a sustained sinus rhythm in 4 patients. These patients were given digoxin initially, but recurrence of persistent tachyarrhythmia necessitated the use of intravenous amiodarone in all these patients. Amiodarone was given initially to the other 4 patients in whom adenosine caused only temporary conversion to the sinus rhythm. It was effective in 2 patients. In the other 2, digoxin was added to therapy for tachycardia control. Amiodarone alone or in combination with digoxin effectively controlled reentrant SVT in all patients. This combined treatment caused ventricular rate control in patient with atrial flutter, and conversion to the stable sinus rhythm was achieved at approximately 8 months. CONCLUSIONS: Intravenous amiodarone alone or in combination with digoxin was found to be safe and effective in controlling refractory and life-threatening SVT in neonates and small infants.

Intraosseous noninvoluting congenital hemangioma of the mandible in a neonate.

Hemangiomas are benign tumors of the capillary endothelium involved in varied clinical and pathologic entities. Congenital hemangioma is quite rare compared to infantile hemangioma. Hemangiomas rarely occur in bone. Intraosseous hemangiomas are most commonly found in the vertebral column and skull. The mandible is the most frequently affected skull bone. Intraosseous hemangiomas commonly present in the second decade of life. Here, we report a neonate with noninvoluting congenital hemangioma of the mandible. To our knowledge, she is the youngest patient reported in the literature.