The Basal or Sphenopetrosal Superficial Middle Cerebral Vein Type.

Background and Objectives: The adult superficial middle cerebral vein (SMCV) commonly drains into the middle cranial fossa. However, different embryonic types persist, in which the SMCV drains into the lateral sinus. The basal type of SMCV coursing on the middle fossa floor is a scarce variant. Materials and Methods: During a retrospective study of archived computed tomography angiography (CTA) and magnetic resonance angiography (MRA) files, three rare adult cases of the basal or sphenopetrosal type of SMCV were found and further documented. Results: In the first case, which was evaluated via CTA, the basal type of SMCV formed a sagittal loop. It continued on the middle fossa floor, over a dehiscent tegmen tympani, to drain into the lateral sinus. In the second case, documented via MRA, the basal type of SMCV's anterior loop was in the coronal plane and closely related to the internal carotid artery and the cavernous sinus. It continued with the basal segment over a dehiscent glenoid fossa of the temporomandibular joint (TMJ). In the third case, documented via CTA, the initial cerebral part of the SMCV had a large fenestration. The middle fossa floor coursed within a well-configured sulcus of the SMCV and received a tributary through the tympanic roof. Its terminal had a tentorial course. Conclusions: Beyond the fact that such rare variants of the SMCV can unexpectedly interfere with specific approaches via the middle fossa, dehiscences of the middle fossa floor beneath such variants can determine otic or TMJ symptoms. Possible loops and fenestrations of the SMCV should be considered and documented preoperatively.

Club Cells-A Guardian against Occupational Hazards.

Club cells have a distinct role in the epithelial repair and defense mechanisms of the lung. After exposure to environmental pollutants, during chronic exposure, the secretion of club cells secretory protein (CCSP) decreases. Exposure to occupational hazards certainly has a role in a large number of interstitial lung diseases. According to the American Thoracic Society and the European Respiratory Society, around 40% of the all interstitial lung disease is attributed to occupational hazards. Some of them are very well characterized (pneumoconiosis, hypersensitivity pneumonitis), whereas others are consequences of acute exposure (e.g., paraquat) or persistent exposure (e.g., isocyanate). The category of vapors, gases, dusts, and fumes (VGDF) has been proven to produce subclinical modifications. The inflammation and altered repair process resulting from the exposure to occupational respiratory hazards create vicious loops of cooperation between epithelial cells, mesenchymal cells, innate defense mechanisms, and immune cells. The secretions of club cells modulate the communication between macrophages, epithelial cells, and fibroblasts mitigating the inflammation and/or reducing the fibrotic process. In this review, we describe the mechanisms by which club cells contribute to the development of interstitial lung diseases and the potential role for club cells as biomarkers for occupational-related fibrosis.

The Influence of Periodontal Disease on Oral Health Quality of Life in Patients with Cardiovascular Disease: A Cross-Sectional Observational Single-Center Study.

Background and Objectives: Cardiovascular disease is a leading cause of global death with a rising prevalence and a heavy economic burden. Periodontal disease has been associated with cardiovascular diseases­including incident coronary heart disease, peripheral artery disease and ischemic stroke. The study evaluates the quality of life of patients with cardiovascular and periodontal disease from the point of view of oral health by using the short version of the Oral Health Impact Profile (OHIP-14) questionnaire. Materials and Methods: This study included a total of 221 patients (61.86 ± 15.03 years old) selected from the Emergency Hospital of Sibiu, Romania. The participants self-completed the OHIP-14 questionnaire and they benefited from an oral health examination conducted to assess the presence and the severity of periodontal disease. Results: Out of the 147 patients with cardiovascular disease, 77.5% had periodontal disease (32.6% stage I, 29.2% stage II, and 15.6% stage III and IV). The presence of periodontal disease was associated with a lower oral-health-related quality of life (p < 0.001, ANOVA) and with a higher OHIP-14 score in patients with cardiovascular disease (18.67 ± 8.17, p < 0.001 ANOVA). No significant difference was observed concerning patient sex and background; however, age, body mass index and the lack of an appropriate oral hygiene routine had a strong association with the individual quality of life. The general OHIP-14 score was higher in patients with periodontal disease and associated cardiovascular disease, the presence of both cardiovascular and periodontal disease being associated with a lower quality of life. Conclusions: By increasing the patients' awareness to oral healthcare measures, better outcomes and improved oral-health-related quality of life could be observed.

Genetic Counseling and Management: The First Study to Report NIPT Findings in a Romanian Population.

Background and Objectives: Non-invasive prenatal testing (NIPT) has been confirmed as the most accurate screening test for trisomies 21, 18, 13, sex chromosomes aneuploidies and several microdeletions. This study aimed to assess the accuracy of cell free DNA testing based on low-level whole-genome sequencing to screen for these chromosomal abnormalities and to evaluate the clinical performance of NIPT. Materials and Methods: 380 consecutive cases from a single genetic center, from Western Romania were included in this retrospective study. Cell-free nucleic acid extraction from maternal blood, DNA sequencing and analysis of sequenced regions were performed by BGI Hong Kong and Invitae USA to determine the risk of specific fetal chromosomal abnormalities. In high-risk cases the results were checked by direct analysis of fetal cells obtained by invasive methods: 6 chorionic villus sampling and 10 amniocenteses followed by combinations of QF-PCR, karyotyping and aCGH. Results: NIPT results indicated low risk in 95.76% of cases and high risk in 4.23%. Seven aneuploidies and one microdeletion were confirmed, the other results were found to be a false-positive. A gestational age of up to 22 weeks had no influence on fetal fraction. There were no significant differences in fetal fraction across the high and low risk groups. Conclusions: This is the first study in Romania to report the NIPT results. The confirmation rate was higher for autosomal aneuploidies compared to sex chromosome aneuploidies and microdeletions. All cases at risk for trisomy 21 were confirmed. Only one large fetal microdeletion detected by NIPT has been confirmed. False positive NIPT results, not confirmed by invasive methods, led to the decision to continue the pregnancy. The main limitation of the study is the small number of patients included. NIPT can be used as a screening method for all pregnancies, but in high-risk cases, an invasive confirmation test was performed.

Morphological Study of Fossa Ovalis in Formalin-Fixed Human Hearts and Its Clinical Importance.

Background and Objectives: Our study aimed to investigate the gross anatomy aspects of the fossa ovalis (FO) and the presence of some anatomical variation resulting from the incomplete fusion of septum primum and septum secundum, such as an atrial septal pouch (SP) and left atrial septal ridge. Materials and Methods: Thirty-one adult human hearts removed from formalin-fixed specimens were examined to provide information about the morphology of the FO. The organs were free of any gross anatomically visible pathological conditions. Results: The most common variants were the FO located in the inferior part of the interatrial septum (64.51%), circular (61.3%), with a net-like structure (51.62%), prominent limbus (93.55%), and patent foramen ovale (PFO) (25.8%). The right SP was observed in 9.67% of specimens, the left SP was observed in 29.03% of cases, and in 51.61% of cases, a double SP was observed. One sample presented a right SP and a double left SP, and one case showed a triple left SP, which was not reported previously to our knowledge. Conclusions: Knowledge of the interatrial septal anatomy becomes important for interventional cardiologists and should be documented before transeptal puncture.

Bilateral anatomical variations in the extensor compartment of forearm and hand.

An unusual variation of the extensor muscles was found during the routine dissection of the posterior compartment of the forearm. The left forearm presented an extensor medii proprius muscle, the tendon of which had an unusual trajectory. It passed through the second extensor compartment between the tendons of the extensor carpi radialis longus and extensor carpi radialis brevis muscles. The right forearm presented two muscles for the index finger: one, the extensor indicis et medius communis, the tendon of which was split into three tendons, one radial and one ulnar for the index finger and a rudimentary tendon for the middle finger; the second muscle for the index finger had an unusual origin, common with the extensor carpi radialis brevis, and its tendon ran superficially to the tendon of the extensor indicis et medius communis muscle. Knowledge goes tendon variations can be significant not only for clinicians to misdiagnose a debilitating wrist extensor pain syndrome but also for surgeons to avoid iatrogenic injuries in hand surgery.

CHARGE syndrome associated with de novo (I1460Rfs*15) frameshift mutation of CHD7 gene in a patient with arteria lusoria and horseshoe kidney.

CHARGE syndrome is an autosomal dominant condition caused by mutations in the chromodomain helicase DNA binding protein 7 (CHD7) gene. The present study reported on the case of a 16-month-old female with plurimalformative syndrome, whose etiology was identified by clinical whole-exome sequencing (WES) analysis. Clinical and follow-up assessments identified multiple craniofacial dysmorphisms, congenital defects and functional symptoms, including dysphagia and Marcus Gunn jaw winking synkinesis. Trio-WES analysis was performed for the patient and their parents and the presence of CHARGE syndrome was further indicated using single-molecule real-time sequencing. A de novo pathogenic variant, c.4379_4380del (p.Ile1460Argfs*15), was identified in exon 19 of the CHD7 gene, which resulted in a premature translational stop signal. Trio-WES analysis was used for further investigation, indicating that neither of the patient's parents had the mutation and confirming its de novo nature. To the best of our knowledge, the case of the present study was the first reported case of CHARGE syndrome in Romania with congenital defects including an aberrant right subclavian artery and a horseshoe kidney. CHARGE syndrome was diagnosed in the patient based on the pathogenic mutation in the CHD7 gene. To the best of our knowledge, the present case report is the first to suggest that the CHD7 gene variant is associated with CHARGE syndrome.

Incidence and Spectrum of Chromosome Abnormalities in Miscarriage Samples: A Retrospective Study of 330 Cases.

Embryonic chromosome abnormalities are the most important causes of early spontaneous abortions. The aim of this study was to evaluate the spectrum and the frequencies of chromosomal anomalies in spontaneous miscarriages and to correlate these with maternal and gestational age. A retrospective study was conducted based on data obtained from a single medical genetics laboratory that collects cases from Western Romania. Long-term cultures of chorionic villus samples were established for karyotype analysis by GTG banding. Additionally, we performed QF-PCR to detect aneuploidies for chromosomes 13, 18, 21, X, and Y. In total, chorionic villi samples of 330 miscarriages (from August 2007 to November 2018) were analyzed. Results were obtained for 90.6% (299/330) of the cases. The remaining 9.4% (31/330) were excluded from evaluation due to inconclusive results. An abnormal karyotype was found in 156 cases (47.27%), while in 143 cases (43.33%) a normal karyotype was present. Of the abnormal cases, 88 (56.4%) had trisomies, 25 (16.0%) presented polyploidies, 25 (16.0%) had monosomy X, and 19 (11.5%) chromosome rearrangements. QF-PCR analysis identified aneuploidy in 2 out of 8 samples (25%). Cytogenetic investigations of spontaneous abortions provide valid data as to the cause of the abortion. This information may also be helpful for genetic counseling and considering future pregnancies.

Unusual anatomical variation: tetrafurcation of the celiac trunk.

The celiac trunk is one of the main sources of vascularization of the supracolic abdominal compartment. It arises from the abdominal aorta, at the level of T12-L1 vertebrae and classically branches into the splenic artery, common hepatic artery, and left gastric artery. We report here an atypical branching pattern of the celiac trunk, found during the dissection of a 60-year-old female's formalin-fixed cadaver. The atypically celiac trunk gave rise to four branches: a common trunk for left and right inferior phrenic arteries, an accessory left gastric artery, the common hepatic artery, and a splenogastric trunk. Knowledge in detail about normal anatomy and variation in the branching pattern of the celiac trunk is important in surgical, oncological, and radiological interventional procedures and must be taken into account to avoid possible complications.

An Aberrant Subclavius Posticus Muscle: A Case Report.

OBJECTIVE: An aberrant subclavius posticus muscle was found during routine dissection of the left infraclavicular fossa of a 60-year-old male cadaver. PRESENTATION: This aberrant muscle arises antero-medially, from the costoclavicular ligament, runs postero-laterally, over the trunks of the brachial plexus, and postero-lateral has a common insertion with the omohyoid muscle. CONCLUSION: The presence of such an aberrant muscle may cause a dynamic compression of the subclavian artery and brachial plexus.

Surgical treatment in a case of giant macrodystrophia lipomatosa of the forefoot.

Macrodystrophia lipomatosa is a rare, congenital, non-hereditary disease, characterized by local gigantism of the fingers or toes. We report the case of a 37-month-old boy, with no prior past medical history, who presented with a gigantic dystrophy of the left forefoot. The location of the deformity was involving the plantar and dorsal aspect of the foot, and digits 1 to 4. After clinical examination, imaging study assessment, and differential diagnosis considerations, it was established that macrodystrophia lipomatosa was the cause of the deformity. A reconstructive surgical intervention was planned. The hypertrophied tissues were excised, resulting in a reduction in the forefoot's volume. The patient had a favorable postoperative course and ambulation was allowed with a custom-made shoe. The case represents a rare pathological entity with complex diagnostic and therapeutic considerations. As far as treatment options, the surgeon must decide between a reconstructive surgical intervention and amputation.

Benign gastric tumors. Anatomopathological aspects of the gastric wall.

UNLABELLED: Benign tumours of the stomach are quite rare and are discovered accidentally during routine endoscopy or necroscopy. They represent less than 20 per cent of gastric tumours, and their clinical picture consists in pain, bleeding and antropyloric stenosis. MATERIAL AND METHOD: The cases were studied retrospectively over a 10-year period (1995 - 2005) and consist of patients that underwent needle biopsies and surgery in the Timis County Hospital. RESULTS: Benign tumoural pathology was present in 73 cases, 43 (58.9%) in women, 30 (42.1%) in men. The age of the patients ranged between 36-88 years in women, and 31-87 years in men. The material for study consisted in gastric resection pieces and specimens of needle biopsy. In order to establish the histopathological diagnosis and to define the specific type of the damage, the first specimens were stained using morphological methods. Routine morphological investigation was carried out through Hematoxylin-Eosine staining, which was the standard technique used for all the cases.

Anatomic and pathological aspects in the pathology of malignant gastric tumors.

Efforts in perfecting the methods of early diagnosis, in trying to assess premalignant conditions, and in properly staging malignant tumors are still in trend. The geographic area around Timisoara (Banat Region) is situated on the first place in the country as far as the gastric location of cancer is concerned. The authors aimed to deal with the initial stage in the development of gastric cancer, a stage which has been oncologically termed "precancerous damage", and with the neoplastic invasion of the gastric wall. The present paper is based on the 1995-2005 statistics of the IInd Surgical Department of the Timisoara County Hospital, the study group consisting of 802 patients admitted for gastric disorders, 522 of which being later diagnosed with a tumoral pathology. Routine morphological tests were conducted on biopsy pieces dye stained with Hematoxylin-Eosin, standard technique, the van Gieson trichromic staining, the Giemsa staining, the AA-PAS staining and the immunoreaction methods. The age for gastric tumoral pathology ranged between 36-88 years in females, and 31-87 years in males. Most gastric carcinomas are adenocarcinoma, 404 (90%) cases--could be classified as follows: 167 cases of tubular adenocarcinoma; 39 cases of papillary adenocarcinoma; 24 cases of mucinous or colloid adenocarcinoma; 141 "signet ring"-cell carcinoma; 33 cases of undifferentiated carcinoma. Currently there is an increase of the incidence of the "diffuse"-type in women and at younger ages. Attention should be given to precancerous conditions; there was a large number of premalignant or potentially malignant gastric damage: atrophic chronic gastritis (54 cases), intestinal metaplasia (104 cases), and gastric dysplasia (104 cases).

Correlations between anomalies of jugular veins and areas of vascular drainage of head and neck.

The study conducted on 60 human cadavers preserved in formalin, in the Anatomy Laboratory of the "Victor Babes" University of Medicine and Pharmacy Timisoara, during 2000-2006, observed the internal and external jugular veins from the point of view of their origin, course and affluents. The morphological variability of the jugular veins (external jugular that receives as affluents the facial and lingual veins and drains into the internal jugular, draining the latter's territory--3.33%; internal jugular that receives the lingual, upper thyroid and facial veins, independent--13.33%, via the linguofacial trunk--50%, and via thyrolinguofacial trunk--33.33%) made possible the correlation of these anomalies with disorders in the ontogenetic development of the veins of the neck. Knowing the variants of origin, course and drainage area of jugular veins is important not only for the anatomist but also for the surgeon operating at this level.