Лактирующая аденома молочной железы у беременной женщины – клинический случай

The article presents the modern views of clinicians and geneticists on one of the most severe genetic disorders of skeletal and connective tissues - osteogenesis imperfecta. The review provided the literature data that showed the incidence rates, genetic heterogeneity of osteogenesis imperfecta, as well as the role of some proteins involved in the construction of bone tissue, as well as a clinical classification of the main types of the disorder. The authors described a clinical case: a girl with typical clinical and radiological manifestations of the rarest of all types of osteogenesis imperfecta - type II (perinatal-lethal, congenital osteogenesis imperfecta, Vrolik’s syndrome). The child’s diagnosis was verified by a parallel DNA sequence analysis which showed a heterozygous mutation in exon 29 (c.1966G> A) of COL1A1 gene not previously described in the literature. It caused the substitution of glycine for serine at position 656. The role of antenatal diagnostics and the importance of medical genetic counselling of the family before planning the next pregnancy due to the existing risk of re-birth of a sick child is outlined. Due to the fact that majority of the patients with the most prognostically unfavourable type II osteogenesis imperfecta, as a rule, die in utero, the described case of observation of the girl with typical clinical and X-ray signs of the disorder for almost 3 months of postpartum period is extremely rare and highly indicative. The detection of the heterozygous mutation in exon 29 (c.1966G > A) of COL1A1 gene by a parallel DNA sequence analysis which was not previously described in the literature gives an additional significance to the described observation.

This retrospective study investigated possible risk factors for intermittent upward fixation of the patella and the outcome of medial patellar desmotomy in 12 cows. All but one young cow had distinctive clinical signs, which usually started in the periparturient period. Medial patellar desmotomy led to normalisation of the stride in 10 cows but did not improve the condition of the young cow. Another cow developed instability and signs of lateral patellar luxation in the affected stifle and was euthanized. The 10 cows that were operated successfully remained in the long term free of symptoms. Medial patellar desmotomy is a suitable treatment for upward patellar fixation in cattle but should be reserved for cows with typical clinical signs. The medial patellar ligament should be cut 4 to 6 cm proximal to its insertion on the tibia to minimise the risk of injury to the middle patellar ligament.

Experimental studies of foot-and-mouth disease (FMD) in feral swine are limited, and data for clinical manifestations and disease transmissibility are lacking. In this report, feral and domestic swine were experimentally infected with FMDV (A24-Cruzeiro), and susceptibility and virus transmission were studied. Feral swine were proved to be highly susceptible to A-24 Cruzeiro FMD virus by intradermal inoculation and by contact with infected domestic and feral swine. Typical clinical signs in feral swine included transient fever, lameness and vesicular lesions in the coronary bands, heel bulbs, tip of the tongue and snout. Domestic swine exhibited clinical signs of the disease within 24 h after contact with feral swine, whereas feral swine did not show clinical signs of FMD until 48 h after contact with infected domestic and feral swine. Clinical scores of feral and domestic swine were comparable. However, feral swine exhibited a higher tolerance for the disease, and their thicker, darker skin made vesicular lesions difficult to detect. Virus titration of oral swabs showed that both feral and domestic swine shed similar amounts of virus, with levels peaking between 2 to 4 dpi/dpc (days post-inoculation/days post-contact). FMDV RNA was intermittently detectable in the oral swabs by real-time RT-PCR of both feral and domestic swine between 1 and 8 dpi/dpc and in some instances until 14 dpi/12 dpc. Both feral and domestic swine seroconverted 6-8 dpi/dpc as measured by 3ABC antibody ELISA and VIAA assays. FMDV RNA levels in animal room air filters were similar in feral and domestic swine animal rooms, and were last detected at 22 dpi, while none were detectable at 28 or 35 dpi. The FMDV RNA persisted in domestic and feral swine tonsils up to 33-36 dpi/dpc, whereas virus isolation was negative. Results from this study will help understand the role feral swine may play in sustaining an FMD outbreak, and may be utilized in guiding surveillance, epidemiologic and economic models.

Acute organ dysfunction, haematologic changes and changes in coagulation are present in virtually all patients with sepsis associated with community acquired pneumonia. We were able to diagnose sepsis linked to community acquired pneumonia in 218 patients, based on typical symptoms and changes in laboratory values from the period of 2012–2020. We examined the frequency and severity of anaemia, quantitative and qualitative changes of leukocytes, numerical abnormalities of platelets, and clinical and laboratory signs of coagulopathy. We diagnosed anaemia of variable severity in 149 cases with sepsis and in 161 patients with leukocytosis. Extremely severe leukocytosis was diagnosed in 6 patients. Variably severe decreases in the number of leukocytes (leukopenia, agranulocytosis) were detected in 33 cases. Leukemoid reaction with increased leukocyte count, myelocytes, metamyelocytes and some atypical myeloid cells in the peripheral blood was diagnosed in 3 patients. Based on platelet counts we detected thrombocytopenia in 82 patients. Myelodysplastic bone marrow characteristics was revealed in one patient after performing biopsy with a Jamshidi needle. Disseminated intravascular coagulation was diagnosed in 6 patients based on typical clinical signs and laboratory tests of the coagulation system.

Characterization of two recent Japanese field isolates of canine distemper virus and examination of the avirulent strain utility as an attenuated vaccine

Treatment of Diabetes in People with Heart Failure

Background. The number of kidney transplantations is increasing worldwide. Therefore, the number of patients with a failed renal graft (RG), returning to dialysis is increasing too. The most common indication for transplantectomy (TE) in patients with late dysfunction is graft intolerance syndrome (GIS). GIS is a reactivation of rejection processes in a failed RG amidst the significant reduction or cessation of immunosuppressive therapy (IST). The diagnosis of GIS is based on clinical and laboratory criteria, including fever, flu-like condition, local pain, tumescence in the graft area, hematuria, anemia, and increased markers of systemic inflammatory response in the absence of a concomitant infectious process. The question of Doppler ultrasound characteristics of GIS remains open. Materials and Methods. A clinical case series of 7 patients (age 25-51 y) with signs and symptoms of GIS is presented (2019-2022 y). At the time of inclusion in the study, all patients received maintenance hemodialysis from 6 months to 3 years. The functioning time of RG was from 9 months to 10 years. Two patients underwent repeated kidney transplantation. All patients underwent a comprehensive ultrasound examination including a Doppler ultrasound evaluation of RG. The special features of TE and subsequent pathohistological examination were studied. Results. All patients demonstrated typical clinical and laboratory signs of GIS (Hb from 74 to 116 g/L, (Me (IQR) 94 [81; 102]), CRP from 12 to 84 mg/L, (Me (IQR) 43 [18; 72]). Most patients had a history of humoral rejection and skipped IST. According to Grayscale examination in all cases thickening pseudocapsule, graft contour unevenness and blurriness of renal pyramids were detected. The increased size of the renal graft was found in 6 patients. Color Doppler mapping demonstrated active intraparenchymal blood flow with disturbed angioarchitectonics and perirenal collaterals. Power Doppler provided a wide variety of spectrums, including collateral and stenotic at different vascular levels. TE was performed in all cases. 5 patients underwent laparoscopic surgery (3 - subcapsular extraction). Median blood loss was 300 mL (IQR) [150; 400]. 2 cases of opened TE complicated by graft bed hematomas and one case complicated by surgical infection. Histopathological examination of removed grafts revealed the signs of acute and chronic vascular rejection. In addition, there was marked narrowing of the arteries of medium and small caliber and signs of severe parenchymal ischemia. Conclusion. All patients with failed RG should be given comprehensive US examination, including Doppler. GIS with active vascular component has characteristic Doppler signs. The presence of perirenal collaterals, active blood flow in failed RG, and fibrous pseudocapsule create additional challenges for TE and require a personalized approach to the choice of surgical tactics.

The work is devoted to the presentation of the problem of management and treatmentі tactic of pregnant women with acute myocardial infarction (AMI). As a result of the literature review, the authors emphasize that at present, the pathology of the cardiovascular system, which complicates pregnancy, childbirth and the postpartum period, is in the leading position in the structure of maternal morbidity and mortality in economically developed countries and in developing countries.Most cases of AMI in pregnant women have non-arteriosclerotic mechanisms, and are associated with physiological changes in the cardiovascular system of pregnant women, hormonal changes and imbalance of the anticoagulant hemostasis system.Management of AMI during pregnancy is similar to that in the general population, including methods of revascularization. Aid for pregnant women with AMI should be provided at the center of tertiary or specialized care where there is a possibility of percutaneous intervention with subsequent revascularization.When conducting anticoagulant therapy with a pregnant woman with AMI, it is important to choose the right stent system and choose the mode and term of antiplatelet therapy, based on the term of pregnancy.Management of AMI pregnant women should be multidisciplinary and the team of doctors should include the most experienced specialists in anesthesiologists, obstetricians, gynecologists, cardiologists and interventional cardiac surgeons.Described provisions, the authors support their own experience of therapy and delivery of pregnant women with AMI.

According to the World Health Organization (WHO), as of 2022 approximately 16% of the world’s adult population aged 18 years old and over will be obese. Although overweight and obesity significantly increase the risk of adverse outcomes during pregnancy and childbirth, it is important to know that most women with a body mass index (BMI) > 25 kg/m2 will have an uncomplicated pregnancy. Therefore, it is worth highlighting the morbid obesity (MO), which is defined by the WHO as a BMI ≥ 40 kg/m2. Women with MO are at significantly increased risk of prenatal, perinatal and postpartum complications. It has been established that the rate of cesarean section (CS) in pregnant women with a BMI ≥ 50 kg/m2 approaches 50%.The objective: to present for obstetricians and gynecologists the clinical case of the optimal method of delivery of a pregnant woman with MO and severe preeclampsia using supraumbilical laparotomy and fundal CS, medical and technical support (radio wave scalpel, argon plasma tissue coagulation) for the prevention of peripartum complications. The operation was performed at the main clinical base of the department – in Kyiv Regional Perinatal Center.The use of suprapubic laparotomy incisions during CS in pregnant women with MO leads to significant complications due to difficult retraction of subcutaneous adipose tissue (panniculus), which significantly reduces the visibility of the surgical space, causes difficulties during fetal extraction and increases the likelihood of complications in the mother and fetus.Having analyzed the successfully implemented clinical case, it is worth noting all the obvious advantages of supraumbilical laparotomy and fundal CS in pregnant women with MO, namely: optimal access to the fundus and body of the uterus, easy fetal extraction, reduction of blood loss, postoperative pain and the likelihood of purulent-inflammatory postpartum complications, faster recovery after surgery and reduction of the duration of the woman’s stay in the hospital. The results of the clinical case are consistent with the available data in the scientific literature on this issue.

The topic of intrauterine infections in newborns does not lose its relevance from year to year. Listeriosis in newborns often occurs in severe form, leading to neonatal sepsis, often with a fatal outcome. Awareness of this disease will allow obstetrician-gynecologist and neonatologist to avoid mistakes in diagnosis and exclude congenital listeriosis at the birth of a child with manifestations of intrauterine infection. The aim of the work is to describe a clinical case of transplacental infection with listeriosis of a newborn. The analysis of medical documentation, the course of the neonatal period of a child with a diagnosis of “neonatal disseminated listeriosis” was carried out. In this paper, using the example of the presented clinical case, the main manifestations of congenital listeriosis in a newborn child are described. The main content of the work is a description of clinical forms of pathology, in particular, listeriosis of pregnant women and newborns. Special attention is paid to the consideration of the diagnosis and treatment tactics of the disease. Listeriosis is a disease with the absence of specific clinical symptoms in pregnant women, and therefore, difficulties arise in its diagnosis. If signs of ARVI are detected in pregnant women or an appropriate history, it is necessary to conduct a timely examination, including for lystriosis. Prevention of the disease includes informing the population about the path of transmission of infection, about the threat associated with the use of non-heat-treated dairy products.

Molecular genetic identification of families with juvenile nephronophthisis type 1: Rate of progression to renal failure

Multiple inherited sequence variations in two disease‐causing genes in familial haemophagocytic lymphohistiocytosis

Simple SummaryThis study presents in detail a botulism outbreak in a beef cattle farm where the source of contamination was identified as a carcass of a roaming cat that had contaminated stored feed and initiated the botulism outbreak. In this case report, we present how the diagnosis was performed by describing the clinical signs and the analyses that were conducted; how the source of contamination was identified by analyzing samples collected on the farm, and finally, how the outbreak was managed so as to prevent recurrence of the disease and persistence of the contamination in the farm.We report a botulism outbreak in Charolais cattle fed with wheat flour contaminated by Clostridium botulinum type C and the management of the outbreak at each step from the clinical suspicion to the cleaning and disinfection operations. Diagnosis was based on typical suggestive clinical signs and detection of C. botulinum type C using real-time PCR in samples collected from three young affected bulls. All young exposed bulls and cows (18 animals) eventually died, but three young bulls and one cow were recovering when it was decided to euthanize them. C. botulinum type C was detected in the liver of these four animals. Analysis of the ration components demonstrated that wheat flour, wheat, and the mill used to make flour were positive for C. botulinum type C. A dead cat positive for C. botulinum type C was discovered in the silo where wheat grain was stored and was considered the source of contamination. The cat’s entire body was found mummified, well preserved, and not rotting in the silo. Specific measures, in particular, vaccination of the rest of the herd and cleaning and disinfection operations, were implemented to prevent any recurrence of the outbreak. The presence of wild animal carcasses in feed harboring anaerobic conditions like silage, in particular during harvesting, are known to be at risk for the initiation of a botulism outbreak. This outbreak is a reminder that the presence of an animal carcass in feed, regardless of the kind of feed and whenever the contamination occurs, either during harvesting or storage, is sufficient to induce a botulism outbreak.

Objective To analysis the genotype and phenotype of hereditary retinal diseases (HRD) which are easily misdiagnosed as amblyopia. Methods A case-control study was designed.The patients with HRD who were misdiagnosed as amblyopia in Ningxia Eye Hospital from January to December, 2017 were recruited in this study.The clinical medical history and ophthalmic examinations of patients and their family members were recorded, and family maps were drawed.Peripheral venous blood (5 ml) from each patient and their family members was collected, and genomic DNA was extract.The target sequence capture sequencing technology was used to detect the genetic testing in serum of the patient, and the pathogenic mutation site was determined by Sanger sequencing and co-segregation verification.Genetic testing results with related ophthalmic examination were considered together to analyze the relationship between genotype and phenotype.This study followed the Declaration of Helsinki.Written informed consent was obtained from each subject or the guardian prior to entering study cohort.This study protocol was approved by Ethic Committee of People's Hospital of Ningxia Hui Autonomous Region Hospital (No.2016018). Results Twenty-two patients with HRD were enrolled in the study, including 10 Stargardt disease (STGD), 8 cases of cone dystrophy (COD) or cone and rod dystrophy (CRD), and 5 cases of familial exudative vitreoretinopathy(FEVER). Nine patients were detected to have pathogenic mutations, and the positive rate was 40.9%, of which 4 patients with STGD carried mutation gene, including ABCA4 and PROM1 genes; mutations in RPGR, PROM1 and GUCY2D genes were detected in 3 patients with COD or CRD; TSPAN12 gene mutation were detected in 2 patients with FEVER.Eleven mutation sites were detected, 4 of which were newly discovered mutation sites.All of the patients in 9 HRD families developed symptoms during adolescence.At the early stage of the disease, there was severe damage to the eyesight, but the fundus was normal or only slightly abnormal.As the disease progressed, the fundus changes were characteristic, and there were clinical phenotypic overlap between some diseases.All family genotypes and clinical phenotypes were co-separated. Conclusions The main pathogenic gene of STGD is ABCA4 gene, and PROM1 gene can also cause partial STGD; COD and CRD have similar clinical manifestations, and the pathogenic genes also cross each other, and the genetic pattern is diverse; FEVER caused by mutation of TSPAN12 gene is autosomal dominant, and the mutation type has missense mutation and frameshift mutation.HRDs lack typical early clinical signs, and genetic diagnosis can provide pre-symptomatic diagnosis. Key words: Hereditary retinal disease; Genotype; Phenotype

L’urticaire chronique : du diagnostic au traitement dans la population Tunisienne