Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology.

An ENDO-European Reference Network (ERN) initiative was launched that was endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology with 22 participants from the ENDO-ERN and the two societies. The aim was to update the practice guidelines for the diagnosis and management of congenital hypothyroidism (CH). A systematic literature search was conducted to identify key articles on neonatal screening, diagnosis, and management of primary and central CH.

Novel Mutations in the NKX2.1 gene and the PAX8 gene in a Boy with Brain-Lung-Thyroid Syndrome.

Objective: To elucidate the molecular mechanism which causes thyroid dysgenesis (TD) in a boy with brain-lung-thyroid syndrome.

Design, Patients, Measurements: We describe a patient with TD, respiratory disease and cerebral palsy who is heterozygous for mutations in two different genes, the PAX8 (p.E234K) and the NKX2.

Familial Central Hypothyroidism Caused by a Novel IGSF1 Gene Mutation.

Background: Congenital hypothyroidism of central origin (CH-C) is a rare disease in which thyroid hormone deficiency is caused by insufficient thyrotropin stimulation of a normal thyroid gland. A recently described syndrome of isolated CH-C and macroorchidism was attributed to loss-of-function mutations of the immunoglobulin superfamily, member 1 gene (IGSF1).

Patients And Methods: CH-C was diagnosed in three siblings.

Persistence of Bactericidal Antibodies After Infant Serogroup B Meningococcal Immunization and Booster Dose Response at 12, 18 or 24 Months of Age.

Background: A serogroup B meningococcal vaccine (4CMenB) is licensed for infant use in countries including Canada, Australia and those of the European Union. Data on serum bactericidal antibody (hSBA) waning and the ideal timing of a "toddler" booster dose are essential to optimize vaccine utilization.

Methods: An open-labeled, multicenter phase-2b follow-on European study conducted from 2009 to 2012.

A novel deletion in the thyrotropin Beta-subunit gene identified by array comparative genomic hybridization analysis causes central congenital hypothyroidism in a boy originating from Turkey.

Background: Isolated central congenital hypothyroidism (ICCH) is rare but important. Most ICCH patients are diagnosed later, which results in severe growth failure and intellectual disability.

Objective: We describe a boy with ICCH due to a large homozygous TSHβ gene deletion.

A new mutation in the promoter region of the PAX8 gene causes true congenital hypothyroidism with thyroid hypoplasia in a girl with Down's syndrome.

Background: Thyroid dysfunction is common in newborn infants with Down's syndrome (DS), but defects causing classic thyroid dysgenesis (TD) with permanent congenital hypothyroidism (CH) have not been described.

Objective: We studied a girl with DS and CH who had a mutation in the promoter sequence of the PAX8 gene.

Results: A female infant was found to have trisomy 21 and CH, with a venous thyrotropin (TSH) of >150 mU/L and a free thyroxine (fT4) of 15.

Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNA-binding region: in vitro studies reveal different pathogenic mechanisms.

Background: Mutations in PAX8, a transcription factor gene, cause thyroid dysgenesis (TD). The extreme variability of the thyroid phenotype makes it difficult to identify individuals harboring PAX8 gene mutations. Here we describe two patients with TD and report two novel PAX8 gene mutations (S54R and R133Q).

Clinical and metabolic findings in a 6-year-old boy with a Leydig cell tumour.

Aim: To analyse the urinary steroid metabolome in a boy who had true precocious puberty after a Leydig cell tumour.

Method: Case report and detailed description of clinical and metabolic findings in a 7-year-old-boy with a Leydig cell tumour.

Results:   Before surgery, the urinary steroid metabolome showed an activation of an alternative route to gonadal androgens independent of dehydroepiandrosterone (DHEA).

Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis.

Context: Screening of the known candidate genes involved in thyroid organogenesis has revealed mutations in a small subset of patients with congenital hypothyroidism due to thyroid dysgenesis (TD).

Objective: We studied a girl with TD who had mutations in two transcription factors involved in thyroid development.

Results: Sequencing analysis of candidate genes involved in thyroid gland development revealed a new paternally inherited heterozygous mutation in the NKX2.

Spontaneous cerebrospinal fluid rhinorrhea: a clinical and anatomical study.

Objectives/hypothesis: Spontaneous nasal cerebrospinal fluid (CSF) fistula represents a rare clinical entity. The possible etiology and the localization of the rhinorrhea remain an ongoing clinical challenge. The purpose of this study was to evaluate the localization of spontaneous CSF fistula and to correlate it with anatomical studies.

Single center comparison of anastomotic strictures after radical perineal and radical retropubic prostatectomy.

Objectives: To analyze the incidence and management of anastomotic strictures (ASs) after radical perineal prostatectomy (RPP) and retropubic prostatectomy (RRP) and to identify possible predisposing factors.

Methods: Between 1997 and 2007, we performed 866 RPP and 2052 RRP for localized prostate cancer. Median follow-up was 52 months (12-136).

Diagnosis and surgical management of colovesical fistulas due to sigmoid diverticulitis.

Purpose: Diverticular disease of the colon is the most frequent cause of colovesical fistulas. In this study we evaluated the accuracy of different diagnostic procedures for the detection of colovesical fistula and the clinical outcome in a series of 49 patients who underwent surgery for colovesical fistula due to sigmoid diverticulitis.

Materials And Methods: Between 1982 and 2007, 42 men and 7 women underwent surgery for colovesical fistula due to sigmoid diverticulitis.

Quantification of pulmonary blood flow (PBF): validation of perfusion MRI and nonlinear contrast agent (CA) dose correction with H(2)15O positron emission tomography (PET).

Validation of quantification of pulmonary blood flow (PBF) with dynamic, contrast-enhanced MRI is still missing. A possible reason certainly lies in difficulties based on the nonlinear dependence of signal intensity (SI) from contrast agent (CA) concentration. Both aspects were addressed in this study.

Anticoagulation in a Neurosurgical Patient with Heparin-Induced Thrombocytopenia Type II with Argatroban and Fondaparinux after Clipping of an Intracranial Aneurysm.

BACKGROUND: Therapeutic anticoagulation in patients after a major neurosurgical procedure remains critical because of the risk of a major intracranial bleed. Novel drugs could play a beneficial role in this setting. CASE REPORT: We describe a patient with heparin-induced thrombocytopenia type II and pulmonary embolism who was anticoagulated with argatroban and, later, with fondaparinux.

Outcome of radical prostatectomy for incidental carcinoma of the prostate.

OBJECTIVE To evaluate a contemporary series of patients with incidental prostate cancer detected by transurethral resection of the prostate (TURP) and undergoing radical prostatectomy (RP). PATIENTS AND METHODS Between 1998 and 2004, 1931 patients had TURP for obstructive voiding symptoms and suspected BPH. Incidental prostate cancer was found in 104 (5.

Selective depletion of alloreactive T lymphocytes using patient-derived nonhematopoietic stimulator cells in allograft engineering.

Background: Selective depletion of alloreactive T cells in vitro results in efficient graft-versus-host disease prophylaxis in allogeneic hematopoietic stem-cell transplantation, but it is accompanied by increased recurrence of leukemia. To spare donor T-cell-mediated graft-versus-leukemia immunity against hematopoiesis-restricted minor histocompatibility (minor-H) antigens, we explored the use of patient-derived nonhematopoietic antigen-presenting cells (APC) as allogeneic stimulators for selective allodepletion in leukemia-reactive donor T-cell lines.

Methods: Primary keratinocytes, dermal fibroblasts, and bone marrow fibroblasts were generated from skin biopsies and diagnostic bone marrow aspirates of acute myeloid leukemia patients in vitro.

Management of head and neck paragangliomas: review of 120 patients.

Background: Head and neck paragangliomas (PGL) are rare, mostly benign tumors. About 10% to 15% of PGL are caused by mutations in the succinate dehydrogenase genes B, C, or D and may appear multifocally.

Methods And Results: A retrospective review of 120 patients with 146 head and neck PGL, including 46 carotid body tumors (CBT), 13 vagal tumors, 55 jugulotympanic tumors (JTT), 25 tympanic tumors (TT) and 7 tumors in other locations are included.

Intrathyroidal thymic tissue surrounding an intrathyroidal parathyroid gland, the cause of a solitary thyroid nodule in a 6-year-old boy.

Ectopic intrathyroidal thymic tissue is a rare occurrence; parathyroid glands sometimes occur in an intrathyroidal location, but this is uncommon. We report a 6-year-old boy who was noted to have a solitary thyroid nodule on ultrasound. A hemithyroidectomy was performed, and histological investigation revealed that the nodule consisted of ectopic intrathyroidal thymus tissue surrounding a well-defined parathyroidal gland.

Prevention and treatment of intracranial hypertension.

Intracranial pressure (ICP) is the pressure exerted by cranial contents on the dural envelope. It comprises the partial pressures of brain, blood and cerebrospinal fluid (CSF). Normal intracranial pressure is somewhere below 10 mmHg; it may increase as a result of traumatic brain injury, stroke, neoplasm, Reye's syndrome, hepatic coma, or other pathologies.

Malignant paraganglioma caused by a novel germline mutation of the succinate dehydrogenase D-gene--a case report.

Background: Paragangliomas of the head and neck are rare, mostly benign tumors. Approximately 10% to 15% of paragangliomas are caused by mutations in the succinate dehydrogenase (SDH) genes B, C, or D. These are often multifocal as part of paraganglioma syndromes and hormone secreting, and malignant particularly associated with mutations in SDHB.

Ascorbic acid reduces noise-induced nitric oxide production in the guinea pig ear.

Objectives: Noise-induced hearing loss can be caused, among other causes, by increased nitric oxide (NO) production in the inner ear leading to nitroactive stress and cell destruction. Some studies in the literature suggest that the degree of hearing loss (HL) could be reduced in an animal model through ascorbic acid supplementation. To identify the effect of ascorbic acid on tissue-dependent NO content in the inner ear of the guinea pig, we determined the local NO production in the organ of Corti and the lateral wall separately 6 hours after noise exposure.

Localization of congenital tegmen tympani defects.

Objective: This study sets out to demonstrate the normal developmental steps of the tegmen tympani and thus explains the typical localization of congenital tegmental defects.

Specimens: For this study, 79 macerated and formalin-fixed human temporal bones from 14th fetal week to adults were observed and prepared.

Intervention: Macroscopic and microscopic examination of the prenatal and postnatal changes of the tegmen tympani during its development.

Treatment of Ménière's disease by low-dosage intratympanic gentamicin application: effect on otolith function.

Objectives: The intratympanic application of a low dosage of gentamicin is increasingly favored as treatment for Ménière's disease. While posttreatment observations have confirmed a long-term success of the therapy of vertigo attacks, clear differences in the posttreatment recovery interval can be observed. In addition to differences in central-vestibular compensation, the degree of peripheral vestibular damage, i.