Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.

Elevated serum prolactin concentrations occur in inherited disorders of biogenic amine metabolism because dopamine deficiency leads to insufficient inhibition of prolactin secretion. This work from the International Working Group on Neurotransmitter Related Disorders (iNTD) presents the results of the first standardized study on levodopa-refractory hyperprolactinemia (LRHP; >1000 mU/L) and pituitary magnetic resonance imaging (MRI) abnormalities in patients with inherited disorders of biogenic amine metabolism. Twenty-six individuals had LRHP or abnormal pituitary findings on MRI.

Chenodeoxycholic acid rescues axonal degeneration in induced pluripotent stem cell-derived neurons from spastic paraplegia type 5 and cerebrotendinous xanthomatosis patients.

Background: Biallelic mutations in CYP27A1 and CYP7B1, two critical genes regulating cholesterol and bile acid metabolism, cause cerebrotendinous xanthomatosis (CTX) and hereditary spastic paraplegia type 5 (SPG5), respectively. These rare diseases are characterized by progressive degeneration of corticospinal motor neuron axons, yet the underlying pathogenic mechanisms and strategies to mitigate axonal degeneration remain elusive.

Methods: To generate induced pluripotent stem cell (iPSC)-based models for CTX and SPG5, we reprogrammed patient skin fibroblasts into iPSCs by transducing fibroblast cells with episomal vectors containing pluripotency factors.

The Role of Urinary miRNAs in the Diagnosis, Management and Follow- Up of Prostatic Cancer.

Diagnosis and management of prostatic cancer (PCa) cases mainly rely on levels of prostatic- specific antigen (PSA) levels. In the majority of cases, rising of PCa is usually responsible for elevated PSA. However, a wide variety of prostatic abnormalities, such as benign prostatic hyperplasia and infection or inflammation of the prostatic glands, may also impact prostate levels.

The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4.

Purpose: Hereditary spastic paraplegia type 4 is extremely variable in age at onset; the same variant can cause onset at birth or in the eighth decade. We recently discovered that missense variants in SPAST, which influences microtubule dynamics, are associated with earlier onset and more severe disease than truncating variants, but even within the early and late-onset groups there remained significant differences in onset. Given the rarity of the condition, we adapted an extreme phenotype approach to identify genetic modifiers of onset.

Position Paper on the Management of Pregnancy-Associated Superficial Venous Thrombosis. Balkan Working Group for Prevention and Treatment of Venous Thromboembolism.

Venous thromboembolism (VTE) is a multifactorial disease that can possibly affect any part of venous circulation. The risk of VTE increases by about 2 fold in pregnant women and VTE is one of the major causes of maternal morbidity and mortality. For decades superficial vein thrombosis (SVT) has been considered as benign, self-limiting condition, primarily local event consequently being out of scope of well conducted epidemiological and clinical studies.

IgG4-Mediated Neurologic Autoimmunities: Understanding the Pathogenicity of IgG4, Ineffectiveness of IVIg, and Long-Lasting Benefits of Anti-B Cell Therapies.

Background And Objectives: Describe the unique functions of immunoglobulin G4 (IgG4) in IgG4-neurologic disorders (IgG4-ND) and explain why, in contrast to their IgG1-counterparts, they respond poorly to intravenous immune globulin (IVIg) but effectively to anti-B cell therapies.

Methods: The IgG4 structure and isotype switch, B cells and plasmablasts relevant to IgG4 production, and IgG4-induced disruption of the targeted antigens are reviewed and compared with IgG1-mediated autoimmune ND, where IVIg inhibits IgG1-triggered inflammatory effects.

Results: The main IgG4-ND include muscle-specific kinase myasthenia; nodal/paranodal chronic inflammatory demyelinating polyradiculoneuropathy with antibodies to neurofascin-155, contactin-1/caspr-1, or pan-neurofascins; antileucine-rich, glioma-inactivated-1 and contactin-associated protein-like 2 associated-limbic encephalitis, Morvan syndrome, or neuromyotonia; and anti-IgLON5 disorder.

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.

Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This study presents the results of the first standardized deep phenotyping approach and describes the clinical and biochemical presentation at disease onset as well as diagnostic approaches of 275 patients from the registry of the International Working Group on Neurotransmitter related Disorders. The results reveal an increased rate of prematurity, a high risk for being small for gestational age and for congenital microcephaly in some disorders.

Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.

Inherited disorders of neurotransmitter metabolism are a group of rare diseases, which are caused by impaired synthesis, transport, or degradation of neurotransmitters or cofactors and result in various degrees of delayed or impaired psychomotor development. To assess the effect of neurotransmitter deficiencies on intelligence, quality of life, and behavior, the data of 148 patients in the registry of the International Working Group on Neurotransmitter Related Disorders (iNTD) was evaluated using results from standardized age-adjusted tests and questionnaires. Patients with a primary disorder of monoamine metabolism had lower IQ scores (mean IQ 58, range 40-100) within the range of cognitive impairment (<70) compared to patients with a BH deficiency (mean IQ 84, range 40-129).

Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.

Inherited monoamine neurotransmitter disorders (iMNDs) are rare disorders with clinical manifestations ranging from mild infantile hypotonia, movement disorders to early infantile severe encephalopathy. Neuroimaging has been reported as non-specific. We systematically analyzed brain MRIs in order to characterize and better understand neuroimaging changes and to re-evaluate the diagnostic role of brain MRI in iMNDs.

Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.

An amendment to this paper has been published and can be accessed via the original article.

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH) deficiencies.

Background: Tetrahydrobiopterin (BH) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH biosynthesis or recycling. Hyperphenylalaninemia (HPA) is the first diagnostic hallmark for most BH deficiencies, apart from autosomal dominant guanosine triphosphate cyclohydrolase I deficiency and sepiapterin reductase deficiency. Early supplementation of neurotransmitter precursors and where appropriate, treatment of HPA results in significant improvement of motor and cognitive function.

Erratum: The clavipectoral fascia as the unique anatomical criteria for distinguishing breast parenchymal lesions from axillary lymph node metastasis.

[This corrects the article DOI: 10.1093/jscr/rjz135.].

Hiding in Plain Sight: Functional Neurological Disorders in the News.

Objective: Functional movement and seizure disorders are still widely misunderstood and receive little public and academic attention. This is in stark contrast to their high prevalence and levels of associated disability. In an exploratory observational study, the authors examined whether the relative lack of media coverage of functional neurological disorders is in part due to misidentification in "human interest" news stories.

The clavipectoral fascia as the unique anatomical criteria for distinguishing breast parenchymal lesions from axillary lymph node metastasis.

Diagnosing primary breast tumors of the axillary tail of Spence may be extremely challenging, since several lesions may be located in the axillary fossa. In the presented case, a 54-year-old post-menopausal Caucasian female patient presented to our institution complaining about a lump in her left axilla. The preoperative imaging modalities could not clarify whether the tumor is part of the tail of Spence or metastasis of the axillary lymph nodes.

Swift Cure of a Chronic Wound Infected With Multiresistant in an Elderly Patient With Stage 5 Renal Disease.

We present a case of a 91-year-old female with stage 5 renal disease, diabetes type 2, and considerable weakness, suffering from a 2-month-old wound infected by a multiresistant . The wound measured 7 cm in length, 5 cm in width, and 1.5 cm in depth, having purulent white edges and exudates exceeding the size of the wound.

Neutrophil-to-lymphocyte ratio in schizophrenia: A systematic review and meta-analysis.

Background: The immune system appears to be dysregulated in schizophrenia (SZ). The potential prognostic or diagnostic value of neutrophil-to-lymphocyte ratio (NLR), an inexpensive proxy marker for a wide spectrum of conditions, has not been established in SZ. We seek to investigate a) whether NLR is increased in SZ patients, b) if this difference in more prominent in relapsed SZ or first-episode psychosis.

Association of Schizoid and Schizotypal Personality disorder with violent crimes and homicides in Greek prisons.

Background: Personality disorders (PDs) have been associated with both violent crimes and homicides in many studies. The proportion of PDs among prisoners reaches up to 80%. For male prisoners, the most common PD in the literature is antisocial PD.

Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.

Spastic paraplegia type 5 (SPG5) is a rare subtype of hereditary spastic paraplegia, a highly heterogeneous group of neurodegenerative disorders defined by progressive neurodegeneration of the corticospinal tract motor neurons. SPG5 is caused by recessive mutations in the gene CYP7B1 encoding oxysterol-7α-hydroxylase. This enzyme is involved in the degradation of cholesterol into primary bile acids.

Maternal fetal loss history and increased acute leukemia subtype risk in subsequent offspring: a systematic review and meta-analysis.

Purpose: History of fetal loss including miscarriage and stillbirth has been inconsistently associated with childhood (0-14 years) leukemia in subsequent offspring. A quantitative synthesis of the inconclusive literature by leukemia subtype was therefore conducted.

Methods: Eligible studies (N = 32) were identified through the screening of over 3500 publications.

Extracorporeal life support for refractory ventricular tachycardia.

Extracorporeal life support (ECLS) is a very effective bridging therapy in patients with refractory ventricular tachycardia (VT) associated with cardiogenic shock. A moribund patient in extremis, is not amenable to optimization by standard ACC/AHA guidelines. New approaches and novel salvage techniques are necessary to improve outcomes in patients with refractory clinical settings such as malignant ventricular arrhythmias, cardiac arrest, cardiogenic shock and/or pulmonary failure until further management options are explored.

The Avian Collection of the Zoological Museum of the University of Athens (ZMUA).

Background: The Zoological Museum of the University of Athens (ZMUA) was established in 1858. It is the oldest natural history museum of Greece. The museum began its operation with the acquisition of a core collection and has been expanding ever since.