Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).

The Houge type of X-linked syndromic intellectual developmental disorder (MRXSHG) encompasses a spectrum of neurodevelopmental disorders characterized by intellectual disability (ID), language/speech delay, attention issues, and epilepsy. These conditions arise from hemizygous or heterozygous deletions, along with point mutations, affecting CNKSR2, a gene located at Xp22.12.

The Influence of Sagittal Pin Angulation on the Stiffness and Pull-Out Strength of a Monolateral Fixator Construct.

Monolateral pin-to-bar-clamp fixators are commonly used to stabilize acute extremity injuries. Certain rules regarding frame geometry have been established that affect construct stability. The influence of sagittal pin angulation on construct stiffness and strength has not been investigated.

Intake of Acetylsalicylic Acid and High Age Are Risk Factors for Iron Deficiency Anemia in Patients with Large Diaphragmatic Hernias.

Introduction: In 15% of patients with iron deficiency anemia, large diaphragmatic hernias are found as the cause of chronic iron loss. Conversely, iron deficiency anemia is present in 10-40% of diaphragmatic hernia patients. However, it is unclear why some patients with large diaphragmatic hernias develop anemia and others do not.

Aloe Vera-Containing Matrix in Transdermal Fentanyl Therapy Improves Adhesion, Skin Tolerance and Quality of Life: Results of a German Multicenter Study with a New Fentanyl Patch.

Background: Chronic pain represents a significant and costly healthcare problem especially in the older patient. Transdermal opioid therapy is easy to apply and ensures constant supply of active ingredients. However, skin irritation, poor adhesion and systemic side effects complicate transdermal pain therapy.

Screening for nonalcoholic fatty liver disease-when, who and how?

Nonalcoholic fatty liver disease (NAFLD) is becoming a frequent liver disease, especially in patients with metabolic syndrome and especially in Western countries. Complications of NAFLD comprise progressive fibrosis, cirrhosis and hepatocellular carcinoma. NAFLD also represents an independent risk factor for cardiovascular disease, extrahepatic neoplasia and other organ damage, such as renal insufficiency.

Permanent Flank Bulge after Flank Incision: Patient- and Physician-Reported Outcome.

Introduction: The aim of this study was to determine the incidence and risk factors for postoperative flank bulging and associated physiologic/psychologic consequences as well as to establish a clinical flank bulge classification system after open retroperitoneal surgery.

Methods: In this retrospective study, a postal patient survey was sent to 240 patients who underwent open retroperitoneal surgery between 2007 and 2017. Patients, who reported a flank bulge, were invited for further evaluation, which included a clinical examination and standardized photo documentation.

Diabetic Ketoacidosis at Manifestation of Type 1 Diabetes in Childhood and Adolescence—Incidence and Risk Factors.

Background: Diabetic ketoacidosis (DKA) is a potentially life-threatening metabolic disorder that can occur with manifestation of type 1 diabetes mellitus (T1D). The aim of this study was to analyze the incidence of DKA at the time of the diagnosis of T1D in childhood and adolescence, the risk factors, and regional approaches to reduce the incidence of ketoacidosis.

Methods: We investigated the proportion of patients under 18 years of age with DKA (defined as pH <7.

Paraesophageal hernia and iron deficiency anemia: Mechanisms, diagnostics and therapy.

There is ample clinical evidence suggesting that the presence of large axial or paraesophageal hernias may lead to iron deficiency anemia. So-called Cameron lesions, as well as other small mucosa erosions, in the sliding area of these diaphragmatic hernias lead to invisible chronic blood loss and consequently to iron depletion. While the spectrum of symptoms in these patients is large, anemia is often not the only indication and typically not the primary indication for surgical correction of diaphragmatic hernias.

Primary presentation of COVID-19 solely with gastrointestinal symptoms: a problem for the containment of the disease.

An oligosymptomatic patient with initially exclusively gastrointestinal symptoms (massive nausea and mild pancreatitis) turned out to suffer from COVID-19 during the hospital stay. The patient did not exhibit the typical COVID-symptoms cough or fever despite lung involvement. The gastroenterological diagnostic investigations comprised abdominal ultrasound, gastroscopy and endoscopic ultrasound and first revealed no clear cause of these symptoms.

The "Aachen sings" study ("Aachen choir engagement study into GERD symptoms"): moderate singing and breathing exercises in a choir reduce reflux symptoms - a cohort study in non-specialist choristers.

Background:  The influence of singing activities and breathing exercises on the presence of gastroesophageal reflux disease (GERD) symptoms is not clear. While an Austrian study found symptom reduction, an Italian study showed more symptoms in professional opera choristers. These contradictory results may be due to differential intensity of the singing exercises.