Rare Hereditary Burden associated with a Hypercalcemic Small-Cell Carcinoma of Cervix in a Young Female Patient.

BACKGROUND: Oncological diseases have, in most cases, a multifactorial etiology, composed of a combination of external and internal environmental factors. Hereditary tumorous syndromes are mostly autosomal dominant diseases with incomplete but very high penetrance. OBSERVATION: The patient, an 18-year-old virgin female, consulted a gynecologist in June 2018 because of metrorrhagia. Magnetic resonance imaging revealed a cervical tumor with the dimensions 80 × 90 × 80 mm. Histological analysis confirmed the presence of a very rare hypercalcemic type of small-cell carcinoma of the cervix. Further investigation of the germinal exom of the patient showed pathological variations in genes PALB2 and BRCA2, presented with recommendation of detailed examination by medical genetics. CONCLUSION: Clinical experience with this type of tumor is very limited, but it still comes with some useful outcome. Small cell carcinomas of the gynecologic tract are very rare, aggressive diseases, with very poor prognosis, affecting mainly young women. Their origin is most often the ovaries, based on most clinical data, but these tumor also localize to the endometrium, cervix, vagina and vulva. It is an extremely rare type of cancer, for which clinical data is scant due to the extremely low number of reported cases. In this patient, the carcinoma had an unusual genetical mutation burden, which she inherited from her parents. In the light of these findings, we recommend that patients suspected of having a small-cell of the gynecologic tract provide a detailed family history, and that genetic testing be considered in similar cases. This work was supported by MH CR grant 16-33209A and research program of Charles University Progress Q40/06. The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study. The Editorial Board declares that the manuscript met the ICMJE recommendation for biomedical papers. Submitted: 10. 6. 2019 Accepted: 9. 9. 2019.

The impact of mentoring and advising at-risk underrepresented minority students on medical school performance.

This pilot study examined the impact of mentoring and advising at-risk underrepresented minority students received prior to matriculation on their performance in medical school.

Do underrepresented minority medical students differ from non-minority students in problem-solving ability?

BACKGROUND: In medical education, examinations must assess a logical progression toward problem-solving skills. Differences in cognitive development between underrepresented minority students (URMs) and non-URMs may affect examination performance and subsequent attrition rates. PURPOSE: The authors investigated URM and non-URM performances by retrospectively analyzing success rates on exam items of differing cognitive demand. METHOD: Mean correct responses to exam items classified as Recall, Interpretation, or Problem-Solving questions were calculated. Both URM and non-URM groups were stratified by grade point average (GPA) and scores on the Medical College Admission Test (MCAT). Differences were investigated with analysis of variance and general linear models. RESULTS: For all students, performance levels decreased as the cognitive demands of the exam items increased. When stratified by GPA and MCAT score, several important differences were found between URM and non-URM performance. CONCLUSIONS: Because cognitive measures fail to account for the majority of performance differences, noncognitive attributes must contribute to the poorer performance of URMs.

Complete video-assisted resection of trilobar mucormycosis.

A case of trilobar pulmonary mucormycosis in a diabetic patient with severe obstructive pulmonary disease, successfully treated with systemic antifungal therapy and complete video-assisted thoracic surgery (VATS) resection, is presented. The VATS approach permitted accurate diagnosis and definitive therapy using lung-sparing techniques in a minimally invasive manner.

Superior vena cava thrombosis after in vitro fertilization: case report and review of the literature.

Ovarian hyperstimulation syndrome (OHSS) is a rare complication of fertility medication. A 33 year old female with OHSS with thrombosis of the right internal jugular vein, subclavian vein, and superior vein cava underwent in vitro fertilization following stimulation with a GnRH analog with successful implantation. The patient developed abdominal distention and dyspnea, with persistent symptoms that resulted in a 20 lb weight loss. As pregnancy progressed, edema, pain, and tingling sensations developed by the ninth week at which time a CT scan confirmed thrombus with the right internal jugular and subclavian vein and a free floating tip in the superior vena cava. Following treatment with intravenous heparin therapy and subcutaneous low-molecular weight heparin until delivery her symptoms improved. While optimal treatment remains unclear, treatment strategies remain conservative. Identifying the risk factors that lead to the development of OHSS including the identification of those patients at risk for developing OHSS, more extensive investigation of potential underlying coagulopathy in severe or recurrent cases, and consideration of prophylactic subcutaneous heparin or IV albumin supplementation, will facilitate prevention in the high risk population.

[Possibilities and limits of manual medicine in treatment of low back pain.]. / Moznosti a meze manuální medicíny pri lécení bolestí v krízi.

Low back pain is a syndrome when the actual pathological and anatomical diagnosis remains often hidden. The clearly defined findings such as congenital anomalies, degenerative lesion, intervertebral disc protrusion, inflammations, rheumatic diseases, tumours and others should include functional disorders which may be found both in a healthy region and in the region stigmatised in this way. One of the efficient possibilities of the treatment influencing the functional component is manual medicine (sometimes called myoskeletal medicine).The physician acquainted with this method is able to perform a detailed functional examination of individual motoric segments and in a number of cases the treatment may be fast and efficient. This treatment is also cost effective and the number of complications in experienced physicians is minimal. On the other hand it is labour-intensive from the viewpoint of gaining experience and skills. Good results are achived mainly in an acute and sub-acutte condition, worse results have been recorded in chronic pain where a significant role is played apart from functional disorders also be a number of other factors, especially the psychic condition of the patient. Manual medicine deals with a whole range of procedures which have only minimum contraindications and are applicable also in acute pain with antalgic posture. Manipulation is not performed in patients in general poor condition, with circulation disorders, fever diseases, tumours, severe osteoporosis ot the skeleton or acute disc protrusion. The principal contraindication was aptly formulated by Lewit as the application of inadequate technique with regard to the condition of the patient and the local finding. This is also the main risk of otherwise efficient and useful technique of treatment which manual medicine certainly is. Key words: low back pain, manual medicine, diagnosis and treatment.

[Chronic tibialis anterior syndrome.]. / Chronický tibialis anterior syndrom.

Chronic tibialis anterior syndrome affects most frequently adolescent sportsmen. It is manifested by pain on the anterior side of the leg and sometimes also by claudications after burdening. The cause is hypertrophy of the m. tibialis anterior which leads to increased subfascial pressure and thus development of the syndrome. The diagnosis is frequently incorrect and the condition is treated as periostitis or enthesopathy. As the cause is increased subfascial pressure after burdening, causal treatment is fasciotomy of the anterior compartment of the leg. The authors present a case of bilateral syndrome in a female canoeist operated at the age of 19 years. Key words: chronic tibialis anterior syndrome, chronic compartment syndrome, compartment syndrome.

A genetic and molecular characterization of the recA gene from Staphylococcus aureus.

Previous studies have identified mutant strains of Staphylococcus aureus that have deficiencies in genetic recombination and DNA repair. Although these phenotypes were tentatively attributed to mutations within the S. aureus recA gene, experimental evidence to confirm this has never been reported. To characterize recA from S. aureus, we first isolated transposon insertion mutations that were in close proximity to the recA-like mutation (uvs-568) in strain 112 UVS-1. This allowed for the mobilization of the uvs-568 mutation into strain RN4220, the common laboratory strain of S. aureus. Next, using Bacillus subtilis recA as a probe, we cloned S. aureus recA and determined its nucleotide sequence. The deduced amino acid (aa) sequence of RecA contained 347 aa and was 74% identical to B. subtilis RecA. Using a cloned DNA fragment originating from within S. aureus recA, we then constructed a recA null mutant strain, designated KB103, which exhibited the same phenotypic characteristics imposed by the uvs-568 mutation in the same background. Furthermore, genetic and physical mapping of S. aureus recA placed it in the same region as the uvs-568 mutation. These data strongly suggest that these mutations represent different alleles of the same recA gene.

[Personal experience with the use of the Herbert screw in orthopedics and traumatology]. / Nase zkusenosti s pouzitím Herbertova sroubu v ortopedii a traumatologii.

The authors present in the submitted paper their initial experience as well as theoretical possibilities of using Herbert's screw. This is a relatively new type of implant developed originally for stable compressive osteosynthesis of small bones. This screw is made from a titanium alloy in sizes of 16-32 mm and is based on the principle of traction screws. It has, however, compared with the latter some advantages and thus makes a reduction of the period of postoperative fixation possible. It is supplied along with the insertion instruments which facilitate peroperative reposition and retention of fragments for easier insertion of the screw. In the authors' department this screw was used in 1988-1991 for osteosynthesis in 18 patients incl. 12 with fractures of the navicular bone, head of the radius, the patella, Bennett's fracture, osteochondral fractures of the femoral condyle and it was also used for osteosynthesis of scapholunatal desis and desis of the interphalangeal articulations of the hand. In the authors' so far not very numerous group Herbert's screw proved useful--only in one patient the X-ray and clinical finding was not satisfactory and called for further surgical operation. It is, of course, essential to respect the surgical principles for its application, in particular in fractures of the navicular bone. The implant is an advance in the treatment of selected recent injuries as well as their late sequelae.

[Physical medicine and sports]. / Manuální medicína a sport.

In the treatment of sportsmen where one of the essential requirements is a rapid and accurate diagnosis with effective therapy which reduces the period of rest and immobilization, knowledge from the sphere of manual medicine is a great asset. In addition to manipulation procedures proper which call for accurately defined conditions and practice, it is possible to apply a wide range of reflex methods and mobilization to achieve favourable therapeutic results in predominantly functional disorders of the locomotor apparatus. These efforts have their limitations and possibilities and in some instances it is necessary to seek in addition to impaired function also more serious diseases or damage caused by repeated microtraumas.

[Indications for and contribution of diagnostic arthroscopy of the knee joint]. / Indikace a prínos diagnostické artroskopie kolenního kloubu.

The paper deals with indications and diagnostic possibilities of arthroscopy of the knee joint. The first part is devoted to the application of arthroscopy in the diagnosis of acute knee injuries. The Gillquists scheme of diagnostic procedure is outlined. Acute arthroscopy is indicate in acute blockade and in hemarthros. Arthroscopy has made the highest contribution in the diagnosis and treatment of damaged meniscus. High attention is devoted to chondropathy of patella and femoropatellar joint. Possibilities of arthroscopy in the evaluation of femoropatellar congruence are described. Less frequent causes of pains in anterior parts of the knee joint are mentioned (overuse sy, patellofemoral impingement sy, etc.). Arthroscopy is a method of choice in the identification and therapy of synovial plicae. In suspected disease of synovial lining the possibility of aimed biopsy is the main advantage. Other indications are as follows: dissecting osteochondrosis, intrajoint bodies of various etiologies, gonarthrosis. Arthroscopy enables a better planning of some operation interventions and to determine further prognosis. In the conclusion the authors draw attention to the contribution of diagnostic arthroscopy of knee joint in younger children, where a clinical examination and, particularly, its evaluation may be difficult.

Mesenteric fibromatosis complicating familial adenomatous polyposis: predisposing factors and results of treatment.

Between January 1975 and December 1983, 24 of 183 patients (13%) with familial adenomatous polyposis (FAP) seen at the Mayo Clinic had mesenteric fibromatosis (MF). MF was found most often in FAP patients with associated extra-colonic "Gardner" signs (19 patients) and those who had had previous abdominal surgery (20 patients). In 4 patients, MF appeared spontaneously. The male-to-female ratio was 0.4, with a median age of 31 years in women and 37 years in men. Ten of 24 patients (42%) had been asymptomatic prior to diagnosis at time of surgery for FAP. Complications of the disease included intestinal or urinary tract obstruction. Minimal surgical manipulation seemed to be associated with fewer postoperative complications and a lesser risk of regrowth of the tumor. Nonsurgical treatment, including tamoxifen and sulindac in combination, may be beneficial. Surgery should be reserved for relief of obstruction, and bypass is preferred to resection.

Dominant inheritance of the complex of myxomas, spotty pigmentation, and endocrine overactivity.

We describe a family in which lentigines were present in the index patient, in three of her seven siblings, in their mother, and in a niece (the daughter of an affected sister). Cutaneous myxomas were present in the index patient, in two of her brothers, and probably in their mother. In addition, the index patient had two cardiac myxomas. multiple myxoid mammary fibroadenomas, and the Cushing syndrome, and an affected brother had acromegaly caused by a growth hormone-secreting tumor of the pituitary gland. Thus, at least one manifestation of the complex of myxomas, spotty pigmentation, and endocrine overactivity has occurred in three successive generations of this family. Both male and female family members were affected, and 5 of the 11 children of affected persons had the disorder. The karyotypes of two affected persons were normal. These observations are consistent with mendelian dominant inheritance of the syndrome.

Hereditary glaucoma: a report of two pedigrees.

Two family pedigrees with glaucoma are presented. One family has seven generations of autosomal-dominant juvenile-onset type glaucoma. The other family has three different types of glaucoma: autosomal-dominant open-angle glaucoma, autosomal-recessive congenital glaucoma, and probably acquired glaucoma associated with a mature cataract.