Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants.

Bardet-Biedl syndrome (BBS), is an emblematic ciliopathy hallmarked by pleiotropy, phenotype variability, and extensive genetic heterogeneity. BBS is a rare (~1/140,000 to ~1/160,000 in Europe) autosomal recessive pediatric disorder characterized by retinal degeneration, truncal obesity, polydactyly, cognitive impairment, renal dysfunction, and hypogonadism. Twenty-eight genes involved in ciliary structure or function have been implicated in BBS, and explain the molecular basis for ~75%-80% of individuals.

Chronic Complete Distal Aortic Occlusion and Pulmonary Embolism-Atypical Antiphospholipid Syndrome?

Complete aortic occlusion is a rare pathology with various possible etiologies. According to current data, it is most frequently caused by atherosclerosis. However, thrombosis or vasculitis could also be involved.

Esophageal diverticula: from diagnosis to therapeutic management-narrative review.

Background And Objective: Esophageal diverticulum (ED) is a relatively rare condition, characterized by high etio- and pathophysiological versatility, with an uncommon clinical impact, consequently requiring a complete and complex diagnostic evaluation, so that the therapeutic decision is "appropriate" to a specific case. The aim of the paper is, therefore, a reassessment of the diagnostic possibilities underlying the establishment of the therapeutic protocol and the available therapeutic resources, making a review of the literature, and a non-statistical retrospective analysis of cases hospitalized and operated in a tertiary center.

Methods: Thus, classical investigations (upper digestive endoscopy, barium swallow) need to be correlated with complex, manometric, and imaging evaluations with direct implications in therapeutic management.

The Immune, Inflammatory and Hematological Response in COVID-19 Patients, According to the Severity of the Disease.

Introduction: The aim of this study was to evaluate the immune and inflammatory responses in COVID-19 patients by dosing specific IgM and IgG total antibodies and interleukin 6, correlating them with the hematological and biochemical blood parameters and comparing them by the form of the disease.

Materials And Methods: One hundred twenty-five patients with polymerase chain reaction-confirmed COVID-19, hospitalized between 15.03.

Laparoscopic Esocardiomyotomy-Risk Factors and Implications of Intraoperative Mucosal Perforation.

Background: Mucosal perforation during laparoscopic esocardiomyotomy is quite frequent, and its consequences cannot always be neglected. The purpose of the study is to investigate the risk factors for intraoperative mucosal perforation and its implications on the postoperative outcomes and the functional results three months postoperatively.

Material And Methods: We retrospectively identified the patients with laparoscopic esocardiomyotomy performed at Sf.

Adiponectin - stratification biomarker in diastolic cardiac dysfunction.

This study does not propose to elucidate how adiponectin secretion is regulated, but how its adiponectin concentration is an indicator of heart disease. About adiponectin, it is not known whether it is functionally an enzyme, or very likely a cytokine/chemokine/hormone, secreted by fat cells/adipocytes in the abdomen. Abdominal fat secretes 67 hormones, and all of which cause disease.

Cytokines and Chemokines in Breastmilk of SARS-CoV-2 Infected or COVID-19 Vaccinated Mothers.

Introduction: The COVID-19 disease and anti-SARS-CoV-2 vaccination were accompanied by alterations in several inflammatory markers. The aim of our research was to check to what extent such cytokines are transferred to infants via the breastmilk of SARS-CoV-2-infected or vaccinated mothers. Thus, we wanted to check if breastfeeding is safe during SARS-CoV-2 infection or after COVID-19 mRNA-vaccination.

The Role of the Gut Microbiome in Psychiatric Disorders.

The role of the gut microbiome in mental health has been of great interest in the past years, with several breakthroughs happening in the last decade. Its implications in several psychiatric disorders, namely anxiety, depression, autism and schizophrenia, are highlighted. In this review were included relevant studies on rodents, as well as human studies.

Urinary tract infections in complicated kidney stones: Can they be correlated with Guy's stone score?

Objective: To ascertain the existence of a connection between Guy's stone score and infectious complications after percutaneous nephrolitholapaxy.

Methods: The retrospective cohort, multi-centre study was conducted in the urology departments of Prof Dr Theodor Burghele Clinical Hospital and C.I.

Toxic-Induced Nonthyroidal Illness Syndrome Induced by Acute Low-Dose Pesticides Exposure-Preliminary In Vivo Study.

Background And Objectives: Conditions such as trauma, burns, sepsis, or acute intoxications have considerable consequences on the endocrine status, causing "sick euthyroid syndrome". Organophosphate exposure may induce an increase in acetylcholine levels, thus altering the thyroid's hormonal status. The present study aims to identify the effects of acetylcholinesterase inhibition on thyroid hormones.

Hereditary Hemorrhagic Telangiectasia Associating Neuropsychiatric Manifestations with a Significant Impact on Disease Management-Case Report and Literature Review.

(1) Background: Genetic hereditary hemorrhagic telangiectasia (HHT) is clinically diagnosed. The clinical manifestations and lack of curative therapeutic interventions may lead to mental illnesses, mainly from the depression-anxiety spectrum. (2) Methods: We report the case of a 69-year-old patient diagnosed with HHT and associated psychiatric disorders; a comprehensive literature review was performed based on relevant keywords.

Variations in Biochemical Values under Stress in Children with SARS-CoV-2 Infection.

In the case of SARS-CoV-2 infection, children seem to be less affected than adults, but data regarding epidemiologic characteristics and biochemical values are poor and essentially based on limited case series. The aim of our study is to highlight the predictive value of some biochemical markers at hospitalization, for the correct classification of the patient in the form of disease. Methods: We performed an analytical retrospective study on 82 pediatric patients diagnosed with COVID-19 in the emergency department, with moderate or severe form of disease, and treated in our tertiary hospital.

Relationship between allergic rhinitis and allergic conjunctivitis (allergic rhinoconjunctivitis) - review.

Allergic rhinitis and allergic conjunctivitis are so frequently associated that the need to coin a new name to describe the simultaneous manifestations generated the term allergic rhinoconjunctivitis. The significant impact of rhinoconjunctivitis on the quality of life and the wellbeing of the patients is the reason why the medical community shows a great interest to this disease. Another aspect is the financial burden that is not negligible.

Correlation of Angiogenesis and Inflammation with Post-Operative Complications in Patients with Fatty Liver Disease Undergoing Liver Resection.

Background: Hepatic steatosis has been identified as an independent risk factor for post-operative complications. The aim of our research was to assess how inflammation and neoangiogenesis associated with different stages of hepatic steatosis are related to post-operative complications in patients who undergo hepatic resection.

Methods: Our study included 19 patients with hepatic steatosis undergoing liver resection for primary or secondary tumors.

Paget's disease of bone and megaloblastic anemia in a 72-year-old patient: A case report and systematic literature review.

Paget's disease of bone (PDB) is characterized by abnormal osteoclastic bone resorption with disorganized bone neo-formation, primarily affecting elderly (>55 years) patients. Although the majority of patients are asymptomatic, some patients may experience bone pain due to local periosteal involvement or osteoarthritic lesions in the spine; in addition, limb deformities may lead to secondary gait problems or degenerative joint changes. Anemia has an overall prevalence of 12-17% in elderly adults (>65 years old), with macrocytic anemia being the less common type.

Analysis of long-term anatomic results of radical mastoidectomy.

A long-term, retrospective, non-controlled study was performed on the drainage results of mastoidectomy (both radical and modified radical) and the relevant statistical factors that could influence the anatomic outcome were defined. The present study took into consideration the same cohort of 200 patients we have communicated with before in our previous studies concerning the long-term functional results of mastoidectomy and long-term results of ossicular replacement with biovitroceramic prosthesis. The patients were clinically followed for the same period of 8.

Rheumatological Adverse Events Following Immunotherapy for Cancer.

: The occurrence of rheumatological side effects in a patient after receiving immunotherapy for cancer is becoming increasingly common. Oncologists often fail to diagnose and refer affected patients to rheumatologists. This paper presents the various rheumatological adverse events that occur after immunotherapy in patients as well as their treatment and evolution.

COVID-19 Impact and Vaccination Willingness among Romanian Patients with Autoimmune/Immune-Mediated Diseases.

Background: During the COVID-19 pandemic, patients with immune diseases are a vulnerable population. We aimed to evaluate their access to medical care, as well as their awareness and willingness to obtain the vaccine after a year of the SARS-CoV-2 pandemic.

Methods: A cross-sectional, multicenter study was conducted on a questionnaire basis, handled both online as well as in person.

COVID-19 Vaccine Does Not Increase the Risk of Disease Flare-Ups among Patients with Autoimmune and Immune-Mediated Diseases.

Background: Reports describing post-vaccine autoimmune phenomena, in previously healthy individuals, increased the concerns regarding the risk of disease flare-ups in patients with immune diseases. We aimed to assess the potential risk of disease flare-up, after receiving the COVID-19 (Coronavirus disease 2019) vaccine, during a follow-up period of 6 months.

Methods: We performed a prospective cohort study, enrolling the patients with autoimmune- and immune-mediated diseases who voluntarily completed our questionnaire, both online and during hospital evaluations.

Idiopathic Megacolon-Short Review.

Introduction: Idiopathic megacolon (IM) is a rare condition with a more or less known etiology, which involves management challenges, especially therapeutic, and both gastroenterology and surgery services. With insufficiently drawn out protocols, but with occasionally formidable complications, the condition management can be difficult for any general surgery team, either as a failure of drug therapy (in the context of a known case, initially managed by a gastroenterologist) or as a surgical emergency (in which the diagnostic surprise leads additional difficulties to the tactical decision), when the speed imposed by the severity of the case can lead to inadequate strategies, with possibly critical consequences.

Method: With such a motivation, and having available experience limited by the small number of cases (described by all medical teams concerned with this pathology), the revision of the literature with the update of management landmarks from the surgical perspective of the pathology appears as justified by this article.

The EFSUMB Guidelines and Recommendations for Musculoskeletal Ultrasound - Part II: Joint Pathologies, Pediatric Applications, and Guided Procedures.

The second part of the Guidelines and Recommendations for Musculoskeletal Ultrasound (MSUS), produced under the auspices of EFSUMB, following the same methodology as for Part 1, provides information and recommendations on the use of this imaging modality for joint pathology, pediatric applications, and musculoskeletal ultrasound-guided procedures. Clinical application, practical points, limitations, and artifacts are described and discussed for every joint or procedure. The document is intended to guide clinical users in their daily practice.

Vasculitis associated with the use of an intrauterine device: A case report.

Retinal vasculitis is a complication associated with a local condition or it can be a retinal expression of a systemic inflammatory disorder, which initially may go unnoticed. Drug-associated vasculitis is frequently difficult to identify, because many patients follow treatments with more than one drug and the route of administration varies. A 35-year-old female patient presented with sudden hearing loss, headache and blurred vision that had started two weeks earlier and had become progressively worse.

Analysis of long-term functional results of radical mastoidectomy.

We performed a long-term, retrospective, non-controlled study on the functional results of mastoidectomy (both radical and modified radical) and defined the relevant statistical factors that may influence the hearing outcome. In a cohort of 200 patients, we performed both radical and modified radical mastoidectomy (MRM) and followed them clinically for a period of 8.12 years.