Chest wall deformities and their possible associations with different genetic syndromes.

OBJECTIVE: Our primary objective was to identify discrete and syndromic cases of Pectus excavatum (PE) and Pectus carinatum (PC). We also intended to highlight the significance of further genetic exploration in clinically suspected syndromic cases of PC and PE. Pectus excavatum (PE) and Pectus carinatum (PC) are the most common morphological chest wall deformities. Although various hypotheses have been put forth, the pathogenesis of both entities is largely unknown. Clinicians often refer such cases for further genetic evaluation to exclude an associated underlying connective tissue disorder or a syndrome. Additionally, a detailed anamnesis with focused family history and thorough dysmorphological physical examination was done. PE and PC are considered isolated abnormalities if there is the absence of features of other syndromes, eliminating the need for further genetic evaluations. It is believed that the pattern of inheritance of these non-syndromic isolated PE and PC cases with positive family history could be multifactorial in nature. The recurrence risk of such isolated cases is thought to be low. Further diagnostic studies are indicated as PE and PC could be a part of a syndrome. Among the many syndromes, the most common monogenic syndromes associated with PE and PC are Marfan's and Noonan's. PATIENTS AND METHODS: After obtaining the consent, we compiled a database of the patients who presented with chest wall deformities during the period 2017-2019. We selected 70 cases with PC and PE deformities to identify the discrete and syndromic PC and PE cases. During the study, we perused the cytogenetic and/or molecular analyses, that had been conducted to confirm the clinically suspected syndromic cases. We also scrutinized for the presence of PC and PE cases that are associated with the rare syndrome (s). RESULTS: Various genetic abnormalities were identified in 28 (40%) of the 70 cases that had been diagnosed with chest wall abnormalities. Along with PE and PC, other thoracic wall abnormalities were also identified, such as the broad chest, bell-shaped thorax, and elongated or enlarged thorax. One case of a rare genetic disorder of Morquio syndrome associated with PC was also identified. Novel (previously unpublished) genomic variants are reported here. CONCLUSIONS: It is important to delve deeper when encountering cases of PE and PC by conducting a further genetic exploration of such cases to identify syndromic associations that cause other structural and functional disorders, diagnosis of which might be missed during the early developmental period. Early identification of such disorders may help us correcting the defects, slowing the progression of disease processes, and preparing better to deal with the potential outcome.

Deficiency of Vitamin D, a Major Risk Factor for SARS-CoV-2 Severity.

BACKGROUND: The SARS-CoV-2 outbreak started in March 2020 with more than 120,552,261 cases at present and having caused over 2,667,248 deaths worldwide at the time this paper was written. The clinical signs of SARS-CoV-2 infection are especially evident in the respiratory and cardiovascular systems. Patients can be asymptomatic or present mild respiratory symptoms to severe acute lung injury leading to multiorgan failure and death. The study aims to assess the levels of serum 25-hydroxyvitamin D (25-(OH)-D) in 20 hospitalized patients infected with SARS-CoV-2 and 20 deceased people and to analyze the influence of vitamin D status on the severity of their disease. METHODS: The present study was conducted on 40 patients who tested positive for SARS-CoV-2 infection. They were divided into two groups: 20 patients admitted to the "Victor Babes" Hospital of Infectious Diseases and 20 postmortem cases autopsied at the Institute of Legal Medicine Timisoara, Romania. During the autopsy, blood and bronchial fluid samples were collected for the laboratory. Automate Viral RNA extraction was performed on the Maxwell 48 RSC Extraction System (Promega, USA) using the Maxwell RSC Viral Total Nucleic Acid Purification kit (Promega, USA). After RNA extraction, the samples were amplified on a 7500 real-time PCR (Applied Biosystems, USA) using the genesig® Real-Time PCR Assay 2G (Primer Design, UK). RESULTS: The living and deceased patients selected for the research presented decreased vitamin D levels, which are associated with increased levels of D-dimers, C reactive protein (CRP), and interleukin-6 (IL-6). These patients had a severe form of the SARS-CoV-2 disease, which led to death. CONCLUSIONS: We conclude that deficiency of vitamin D in patients infected with SARS-CoV-2 presents a major risk factor related to the evolution and severity of the disease.

PROLACTIN LEVEL IN PATIENTS WITH FIRST EPISODE SCHIZOPHRENIA TREATED FOR ONE YEAR WITH ATYPICAL ANTIPSYCHOTICS.

CONTEXT: Atypical antipsychotics (AAs) are the first-line treatments for schizophrenia, schizoaffective disorder and bipolar disorder. However, they are now extensively utilized as off label in a myriad of diseases despite their frequently serious metabolic side-effects and hyperprolactinemia. OBJECTIVE: The purpose of our study was to observe long-term (one year) prolactin level change in first episode schizophrenia patients treated with one of the four AAs: olanzapine, quetiapine, amisulpride, ziprasidone. DESIGN: This study is an analysis of the prolactin level associated with the atypical antipsychotics used in European First Episode Schizophrenia Trial (EUFEST) study. SUBJECTS AND METHODS: Seventy-three first episode schizophrenia patients from the 113 patients, randomized to one of the four AAs treatment arms. Prolactin level was obtained at baseline, 6 and 12 months for all the four AAs. Analyses have been done for each antipsychotic separately for each sex. RESULTS: For the male patients neither of the four antipsychotics have been associated with a statistically significant increase of prolactin level in the entire study (p>0.05). In case of the female patients, treatment with olanzapine (p=.021) and ziprasidone (p=.005) has been associated with a decrease of prolactin level in one year compared with baseline. CONCLUSIONS: In both men and women, the administration of these four AAs is not associated with the increase of prolactin levels, moreover, in women's case, there is a reduction of prolactin values at administration of Olanzapine and Ziprasidone. These results are optimistic, suggesting that long term administration of these antipsychotics is safe regarding prolactin level.

WEIGHT GAIN AND ANTIPSYCHOTICS. DATA FROM EUFEST STUDY.

CONTEXT: Schizophrenia is a chronic disease most frequently necessitating lifelong antipsychotic treatment. Selecting which antipsychotic is to be prescribed in an individual schizophrenia patient represents an important clinical decision that need to take into account efficacy and side effects. OBJECTIVE: Evaluating weight gain related with one year antipsychotic treatment in antipsychotic naive first-episode schizophrenia patients. DESIGN: This study is an analysis of weight gain associated with typical or atypical antipsychotics used in European First Episode Schizophrenia Trial (EUFEST) study. SUBJECTS AND METHODS: 113 first episode naïve antipsychotic schizophrenia patients included in EUFEST - Romanian cohort, who were randomized to one of the 5 treatment arms. Weight was obtained at baseline, 3, 6, 9 and 12 months for the 5 antipsychotics (typical-Haloperidol; atypical-Olanzapine, Amisulpride, Ziprasidone, Quetiapine). RESULTS: There are no statistically significant differences between groups treated with typical or atypical antipsychotics or between any individual antipsychotics concerning weight gain during the study. Weight gain was the highest in the first 3 months (57.49%) for all the studied neuroleptics. At the end of the study, the less increase was observed with ziprasidone (3.87 kg) and the highest with olanzapine (9.83 kg). CONCLUSION: Increase in weight has taken place for each individual neuroleptic, but also as a group (all neuroleptics) in the first three months (57.49%). Therefore, we should address the issue of weight gain with great care, especially in first period of antipsychotic administration, in order to fast deploy intervention tailored to maintain pre-treatment weight.

[Endometrial carcinoma in cases under 45 years of age]. / Carcinomul endometrial la cazuri cu vîrste sub 45 ani.

Twelve cases of endometrial carcinoma admitted to the I-st Clinic of Obstetrics and Gynecology of Iasi in the interval 1983-1988 are presented. The patients' age ranged between 33 years (1 case) and 45 years (1 case) with a mean age of 41.3 years. This study was underwent given the increased frequency of this lesion in the premenopausal women (9.3% of all cases recorded in the interval under study). The incidence of the disturbed menstrual cycle was of 58%, that of obstetrical antecedents and obesity of 33% and 50%, respectively. In two cases there was a carcinoma "in situ", the remainder of cases presenting disease in stage I (FIGO classification). The diagnosis was made preoperatively in 7 cases, the other 5 patients being operated upon for uterine fibromatosis. Adenocarcinoma was the most common histological type. The need of ascertaining the etiology of metrorrhagias no matter of patients' age and the role of risk factors and some methods of detection (endometrial cytology, endometrial biopsy) are underlined.

[De-epidermized free skin graft in the treatment of eventrations and hernias]. / Grefa de piele libera dezepidermizata în tratamentul eventratiilor si herniilor.

The study investigated the efficiency of the non-epidermic free skin graft in the treatment of eventration and of hernia. It includes an experimental and a clinical stage. The experimental study investigated the biological integration of the autograft and of histological changes that take place. The authors attempted to determine the optimal site for the insertion of the graft between the parietal anatomic layers, as well as to evaluate their role as a prosthesis. The experiments demonstrated a perfect integration of the dermal auto-graft, as well as the new solidity that it will impart to the wall. The non-epidermic free skin graft was used over a period of 15 years (1964--1978) in a total of 134 patients. The use of the dermic graft is simple from the technical viewpoint, and the post-operative morbidity is not significant. A retrospective clinical study was carried out in 62 patients over a period of 1 to 12 years. Only two relapses were noted (3,2 percent of the total). In the remaining cases the abdominal wall was very solid and there was no sign of eventration.