A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the Gene.

Introduction: Biallelic variants in the gene have been originally associated with a severe skeletal dysplasia called "Schneckenbecken dysplasia" because of the resemblance of the pelvic shape to a snail. More recently, variants have been associated with much milder phenotypes of skeletal dysplasia. Our report describes one such individual with a novel variant.

Mitochondrial trifunctional protein deficiency as a polyneuropathy etiology in childhood.

Background: The mitochondrial trifunctional protein (MTP) is a multienzyme complex of the fatty acid betaoxidation cycle. Mitochondrial trifunctional protein deficiency (MTPD), a rare condition that leads to failure of converting certain fats to energy is characterized by decreased activity of three enzymes in the enzyme complex. Signs and symptoms of MTPD may present during infancy or later in life; those that begin after infancy include hypotonia, muscle pain, rhabdomyolysis, and peripheral neuropathy.

Frequency and status of depression and anxiety in mothers of children with inborn errors of metabolism with restricted diet, with and without risk of metabolic crises.

Objectives: This study aimed to investigate the frequency and status of depression and anxiety among mothers of children with inborn errors of metabolism (IEM) who were on a restricted diet and previously experienced metabolic crises.

Methods: This cross-sectional multicenter descriptive study included 93 children with IEM who were on restricted diet. The patients were divided into two groups: those who had experienced metabolic crises (n=44, urea cycle defect, organic acidemia, maple syrup urine disease, hereditary fructose intolerance) and those who had not experienced previous metabolic crises (n=49; phenylketonuria, galactosemia, and non-ketotic hyperglycinemia).

The diagnostic role of testicular fatty acid-binding protein in testicular ischemia: A randomized controlled experimental study.

To investigate the diagnostic value of testicular fatty acid-binding protein (T-FABP) in acute testicular ischemia and prolonged ischemia. METHODS: The study included a total of 28 prepubertal male Wistar-Hannover rats. The animals were randomly divided into 4 groups as torsion groups (group I; min 30; 7 rats, group II; min 120; 7 rats, group III; min 240; 7 rats) and control group (group IV; 7 rats).

Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients.

Alkaptonuria (AKU) is an inborn error of metabolism caused by the deficiency of homogentisate 1,2-dioxygenase (HGD) as a result of a defect in the HGD gene. HGD enzyme deficiency results in accumulation of homogentisic acid (HGA) in the body, which in turn leads to multisystemic clinical symptoms. The present study aimed to investigate the presenting symptoms, age at diagnosis, and clinical and genetic characteristics of AKU patients followed-up in different centers in Turkey.

Relationships between anthropometric measurements, muscle strength and body awareness.

Most studies on body awareness offer data on assessment and treatment in disease situations. The aim of this study is to investigate the relationship between anthropometric measurements and body awareness level of healthy people. The study was carried out with 289 volunteer students between the ages of 18-25 who studied at university.

A new technique in the evaluation of strangulated and incarcerated hernias: Near-infrared spectroscopy.

Background: The present study aims to investigate the usefulness of NIRS in identifying decreased blood flow in intestinal tissue inside the hernial sac in incarcerated hernias.

Methods: Forty patients with manually irreducible inguinal hernias and with ileus determined by clinical findings and imaging were included in this study. Patients' intestinal oxygenations were measured by placing NIRS probes over the areas of inguinal hernia and over non-herniated areas immediately lateral to these.

[Childhood Traumas, Attachment and Alexithymia in Adolescentswith Psychogenic Nonepileptic Seizure Type of Conversion Disorder].

Objective: In this cross-sectional study, childhood traumas, attachment security and alexithymia in adolescents with psychogenic nonepileptic seizures (PNES) were compared with those of adolescents without any psychiatric disorder using both semi-structured clinical interviews and self-report scales.

Method: This study included 42 adolescents with PNES aged between 12-18 and 38 healthy adolescents who were matched with the study group in respect to socio-demographic variables. All adolescents and their parents were interviewed using Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version in order to evaluate psychiatric disorders.

The Efficacy of Acupuncture in the Treatment of Bell's Palsy Sequelae.

This study was planned to evaluate the effectiveness of acupuncture treatment for the treatment Bell's palsy sequelae. In this study, forty patients with Bell's palsy sequelae were randomly allocated to either the acupuncture or the control group. The clinical outcomes before and after treatment were assessed using the following assays: the facial nerve compound motor action potential and HouseeBrackmann (HB) and Sunnybrook (SB) grading scales.

Nail Scissor as a Rare Foreign Body in the Urethra: Case Report.

Foreign bodies in the urethra are rare in the literature. A majority of the foreign bodies administered in the urethra are because of a psychiatric disorder, senility, intoxication, and self-erotic stimulation. Clinical examination and imaging tests, such as X-ray, ultrasound, computed tomography (CT), and magnetic resonance imaging (MRI) have been used for the diagnosis of foreign bodies.

The Diagnostic Value of Irisin in Pediatric Patients with Acute Abdominal Pain.

Objectives: Diagnosis of pediatric patients presenting to the Emergency Department with acute abdominal pain is not always easy. The purpose of this study was to investigate the effectiveness of irisin, a peptide hormone with reactivity shown in the appendix and neutrophils, in the differential diagnosis of pediatric patients with acute abdominal pain.

Methods: 162 subjects consenting to participate, including 112 patients presenting to the Pediatric Emergency and Pediatric Surgery clinics with acute abdominal pain and 50 controls, were enrolled in the study.

The neuropathic pain component among patients with chronic low back-radicular pain.

Objectives: Determining neuropathic pain component (NPC) among patients with chronic low back pain-radicular pain (CLBP-RP) and the adjustment between scales of neuropathic pain.

Material-methods: One hundred and one patients with CLBP-RP were included in the study. The severity of CLBP-RP was evaluated by visual analogue scale (VAS).

Morphological and morphometric evaluation of intertendinous connections among extensor tendons in fetal hands.

Purpose: The purpose of this study was to determine morphometry and morphology of intertendinous connection on fetal cadavers and perform an evidence on tendon relationships.

Methods: Thirty dorsal fetal cadaveric hands were dissected. Morphometric measurements (length, width, beginning-ending angles and areas) of intertendinous connections were performed.

Transdermal Spirit (Methanol) Poisoning: A Case Report.

Introduction: Methanol is a highly toxic substance and methanol poisoning results in severe health situations. Methanol poisoning occurs when it is consumed by various methods such as orally, by inhalation, and transdermally. Transdermal poisoning is rarely seen and causes severe health complications.

Lichen planus induced by pegylated interferon alfa-2a therapy in a patient monitored for delta hepatitis.

Interferons are used for treatment of chronic hepatitis B. They can induce or exacerbate some skin disorders, such as lichen planus. In this study, as we know, we presented the first case developing lichen planus while receiving interferon treatment due to delta hepatitis.

Associated anomalies with neural tube defects in fetal autopsies.

Neural tube defects (NTD), the consequences of aberrant neural tube closure during embryogenesis, have been mostly investigated in terms of their high prevalence, rate of mortalities and serious morbidities. A proper prenatal outcome counseling of couples coming across a fetal anomaly necessitates the detection and categorization of the primer abnormality, all the co-existing malformations. The aim of this work is to study the incidence and relevance of associated malformations in order to offer a complete pathology report with a true diagnosis.

An anatomical study on the facial nerve trunk in fetus cadavers.

Background/aim: Facial nerve paralysis is the most worrying parotid surgery complication. Little attention has been paid to the facial nerve trunk, especially in children. Pathological variations, tumors, and anatomic variations of the facial nerve may cause parotid and facial nerve surgery difficulties.

S100A8 and S100A9 Positive Cells in Colorectal Carcinoma: Clinicopathological Analysis.

Introduction. In colorectal carcinoma, tumoral tissues infiltrate with various immune/inflammatory cells along their invasive margins and the increased S100A8/A9 expression in these immune cells infiltrating the tumor has recently been demonstrated. We examined S100A8/A9 as a potential therapeutic target in the treatment of colorectal carcinoma.

Value of heart-type fatty acid-binding protein (H-FABP) for emergency department patients with suspected acute coronary syndrome.

Objective: The aim of this study is testing the value of H-FABP in the early diagnosis of ACS alone or with routinely used biomarkers such as myoglobin, CK-MB, and cTn I in patients who admitted to emergency department (ED) with complaint of chest pain and suspected acute coronary syndrome.

Material And Methods: This prospective and cross-sectional study was performed at the Emergency Department of University hospital between June 2009 and September 2010. Patients who were admitted with chest pain within first 48 hours and suspected ACS were enrolled to the study.

A rare complication of gastric bypass (weight loss) surgery: nesidioblastosis.

Here, we present the case of a 31-year-old woman patient who underwent distal pancreatectomy with the history of gastric bypass surgery for obesity. The final histopathological diagnosis of the lesion was nesidioblastosis. Nesidioblastosis is the most common cause of organic persistent hyperinsulinemic hypoglycemia in newborns; however, it is rare in adults.

Can Intestinal Fatty Acid Binding Protein (I-FABP) Be A Marker in the Diagnosis of Abdominal Pathology?

Objectives: Biochemical markers play an important role in the early diagnosis of abdominal pain. This study aimed to investigate the diagnostic value of intestinal type fatty acid binding protein (I-FABP) in patients with abdominal pathology.

Methods: This prospective and descriptive study was performed at the University Hospital Emergency Department.

Health-related quality of life in adolescents with psychogenic nonepileptic seizures.

The aim of this study was to evaluate the health-related quality of life (HRQoL) in adolescents with psychogenic nonepileptic seizures (PNESs) and to identify factors affecting the quality of life in these patients. Thirty-four adolescents with PNESs were compared to 30 adolescents without any psychiatric disorder. The Schedule for Affective Disorders and Schizophrenia for School-Age Children, Present and Lifetime Version (K-SADS-PL) was applied to determine comorbid psychiatric disorders in the study group and to rule out any psychiatric disorder in the control group.