Lesions In Organs Research Articles

Bovine Tuberculosis: Ethiopian Perspective

Bovine tuberculosis is a significant zoonotic disease affecting livestock and humans worldwide, causing substantial economic losses and posing serious public health risks. This review aims to provide an overview of bovine tuberculosis in Ethiopia, highlighting its prevalence, risk factors, transmission routes, clinical manifestations, and diagnostic methods. Mycobacterium bovis primarily causes bovine tuberculosis, which is characterized by granulomatous lesions in various organs. Transmission occurs through inhalation, ingestion of contaminated materials, and direct contact with infected animals. The age, breed, herd size, and management practices are some of the risk factors for bovine tuberculosis. In Ethiopia, the disease is prevalent but poorly controlled, lacking a national control program. Effective diagnosis relies on methods such as the tuberculin skin test, culture, and PCR. Control measures include test-and-slaughter programs, movement restrictions, biosecurity protocols, and public health education. This review underscores the urgent need for a comprehensive national control strategy, enhanced surveillance, public awareness campaigns, and investment in research to mitigate the impact of bovine tuberculosis in Ethiopia, thereby safeguarding both animal and human health.

Clinical Profile of Post-COVID-19 Patients with Persistent Chest Pain: A Cross-sectional Study

Introduction: Chest pain in post-COVID-19 patients can be due to serious alarming post-COVID-19 sequelae, such as Coronary Artery Disease (CAD), pulmonary embolism, myocarditis, etc. Approximately one-fifth of patients attending clinical Outpatient Department (OPD) following COVID-19 recovery present with persistent chest pain. There is limited knowledge about the clinical profile of patients experiencing persistent post-COVID19 chest pain. Aim: To describe the clinical profile of such patients to fill the knowledge gap and acquire new insights into patients with post-COVID-19 persistent chest pain. Materials and Methods: A cross-sectional study was conducted, enrolling a total of 259 patients with persistent chest pain (i.e., chest pain lasting more than 24 weeks after COVID-19 diagnosis). After detailed history-taking and clinical and laboratory examinations, observed data were collected, compiled, evaluated, and analysed to achieve the study objectives. Results: Out of 259 patients, 133 (51.4%) had cardiac {85 (32.8%)} or pulmonary {48 (18.5%)} abnormalities. Among patients with cardiac abnormalities, CAD, arrhythmia, myocarditis/cardiomyopathy, pericarditis, and PAH were detected in 38 (14.6%), 18 (6.9%), 7 (2.7%), 11 (4.2%), and 11 (4.2%), respectively. Meanwhile, among patients with pulmonary abnormalities, 36 (13.9%) patients had organic residual lesions in the lung parenchyma, 7 (2.7%) had pleuritis, and 28 (10.8%) had pulmonary function abnormalities. The remaining 126 (48.6%) patients experienced chest pain due to non cardiopulmonary aetiologies like gastrointestinal {45 (17.3%)}, musculoskeletal {38 (14.6%)}, psychomotor {35 (13.5%)}, autonomic {8 (3.3%)}, etc. Conclusion: This study found that chest pain in post-COVID-19 patients arises due to multisystemic aetiologies such as cardiac, pulmonary, visceral, autonomic, psychomotor, musculoskeletal, etc. A wide spectrum of serious cardiac abnormalities (such as CAD, arrhythmia, myocarditis, pericarditis, PAH, etc.) contributes to about 1/3rd of cases of persistent chest pain in post-COVID-19 patients.

Pediatric hypertension as an early manifestation of cardiovascular disease in children.

In adults, cardiovascular events associated with arterial hypertension (AH) have a major impact on morbidity and mortality. In light of recent findings, AH in children has been interpreted as early cardiovascular disease (CVD), while exposure to CV risk factors in children proves to be a predictor of subclinical CVD in adults. The American College of Cardiology/American Heart Association has recently updated the classifications for measuring blood pressure (BP) in adults and children. Primary AH in children is generally asymptomatic, and it is associated with a family history of AH, overweight/obesity, and normal morphofunctional characteristics of the urinary system. The younger the child and the higher the BP, the greater the likelihood of secondary AH. The investigation into the etiology of AH begins with a detailed anamnesis, which should include clinical information and details on the use of medication, smoking, and alcohol consumption from the perinatal period to the time of consultation. Modifying risk factors by reducing weight, decreasing alcohol consumption and increasing vegetable intake from childhood to adulthood has been associated with the resolution of AH in the childhood-adulthood transition, and with the reversal of cardiometabolic adverse effects in non-obese adult individuals. Pharmacological therapy should be initiated in cases of symptomatic AH, AH secondary to chronic kidney disease or diabetes mellitus, presence of target organ lesions, stage 2 AH with no modifiable cause and resistant AH unresponsive to lifestyle changes.

Periodontitis promotes the progression of diabetes mellitus by enhancing autophagy

ObjectiveThis study aims to identify the periodontitis factor that activates excessive autophagy in pancreatic β cells, resulting in organic lesions of pancreatic islet tissues and diminished insulin secretion, thereby accelerating the progression of diabetes mellitus (DM). MethodsSprague-Dawley (SD) rats were induced with periodontitis (PD), type 2 diabetes mellitus (T2DM), or the combination of T2DM and PD (DP) through a high-sugar/high-fat diet and ligation of the tooth neck with silk thread. Alveolar bone resorption was assessed using Micro-CT, blood glucose levels were measured with a blood glucose meter, pancreatic tissue pathology was examined through HE staining, and the expression of autophagy-related proteins Beclin1 and LC3II/LC3I was analyzed using Western blotting. ResultsMicro-CT results revealed more pronounced alveolar bone resorption and root bifurcation exposure in the PD and DP groups compared to the control group, with the DP group exhibiting the most severe condition. HE staining demonstrated the formation of periodontal pockets, severe alveolar bone destruction, and abnormal pancreatic islet tissue morphology in the PD and DP groups. The serum levels of IL-6, TNF-α, and IL-1β increased sequentially in the control, DM, PD, and DP groups (P < 0.05). Relative expressions of GCK and GLUT-2 mRNA decreased in the PD group compared to the control group (P > 0.05), while the mRNA expressions in the DP and DM groups increased (P < 0.05), with the DP group exhibiting higher levels than the DM group (P < 0.05). Western blot results indicated increased expression levels of autophagy proteins Beclin1 and LC3II/LC3I in the DM and DP groups compared to the control group (P < 0.05), with the DP group exhibiting higher levels than the DM group (P < 0.05). ConclusionThe findings demonstrate that periodontal inflammatory factors may promote the enhancement of pancreatic cell autophagy in diabetic rats.

Protocolo diagnóstico del dolor torácico con sospecha de origen esofágico

Noncardiac chest pain is prevalent in the population. Its main cause is gastroesophageal reflux disease. For a proper diagnostic approach, it is essential to evaluate the presence of alarm criteria: dysphagia, odynophagia, anemia, iron deficiency, constitutional syndrome, bleeding, or vomiting. In their absence, an acid suppression test is recommended without prior additional studies. If they are present, an upper gastrointestinal endoscopy is essential and will allow for observing organic lesions. A pH meter test is the gold standard for detecting pathologic reflux and high-resolution manometry for evaluating motor disorders. If the study is normal, functional esophageal disorders such as functional chest pain and reflux hypersensitivity should be suspected.

SEF-UNet: advancing abdominal multi-organ segmentation with SEFormer and depthwise cascaded upsampling.

The abdomen houses multiple vital organs, which are associated with various diseases posing significant risks to human health. Early detection of abdominal organ conditions allows for timely intervention and treatment, preventing deterioration of patients' health. Segmenting abdominal organs aids physicians in more accurately diagnosing organ lesions. However, the anatomical structures of abdominal organs are relatively complex, with organs overlapping each other, sharing similar features, thereby presenting challenges for segmentation tasks. In real medical scenarios, models must demonstrate real-time and low-latency features, necessitating an improvement in segmentation accuracy while minimizing the number of parameters. Researchers have developed various methods for abdominal organ segmentation, ranging from convolutional neural networks (CNNs) to Transformers. However, these methods often encounter difficulties in accurately identifying organ segmentation boundaries. MetaFormer abstracts the framework of Transformers, excluding the multi-head Self-Attention, offering a new perspective for solving computer vision problems and overcoming the limitations of Vision Transformers and CNN backbone networks. To further enhance segmentation effectiveness, we propose a U-shaped network, integrating SEFormer and depthwise cascaded upsampling (dCUP) as the encoder and decoder, respectively, into the UNet structure, named SEF-UNet. SEFormer combines Squeeze-and-Excitation modules with depthwise separable convolutions, instantiating the MetaFormer framework, enhancing the capture of local details and texture information, thereby improving edge segmentation accuracy. dCUP further integrates shallow and deep information layers during the upsampling process. Our model significantly improves segmentation accuracy while reducing the parameter count and exhibits superior performance in segmenting organ edges that overlap each other, thereby offering potential deployment in real medical scenarios.

Examination of the acute and subchronic oral toxicity of “Com Kien Ty” in experimental animals

We evaluate the acute and subchronic toxicities of “Com kien ty” through oral administration in experimental animals. The acute toxicity was determined using the Litchfield Wilcoxon method in mice. Following WHO's recommendation, the subchronic toxicity was assessed in rabbits with oral doses of 0.9 g/kg/day (equal to the recommended human dose) and 2.7 g/kg/day (3 times as high as the recommended human dose) in 4 consecutive weeks. Results showed “Com kien ty” at the highest dose of 60.0 g/kg did not express acute toxicity in mice. Regarding the subchronic toxicity test, after oral administration of “Com kien ty”, hematological parameters, hepato-renal functions were unchanged as compared with the control group, and no gross lesions in organs were observed in all experimental animals. In conclusion, “Com kien ty” did not produce acute and subchronic toxicities in Swiss mice and New Zealand rabbits.

Ayurveda management of Bulky Uterus &amp; Abnormal Uterine Bleeding (AUB) associated with Hypothyroidism: A Case Report

Many women are suffering from dysfunctional uterine bleeding (DUB). DUB is defined as a state of abnormal uterine bleeding without any clinically detectable organic, systemic, and iatrogenic causes (pelvic pathology e.g. tumour, inflammation or pregnancy is excluded). The prevalence varies widely but an incidence of 10% amongst new patients attending the outpatient seems logical. As the diagnose is based with exclusion of “organic lesion”, so with the care and facilities to exclude such a lesion, the incidence varies. Currently DUB is defined as a state of abnormal uterine bleeding following anovulation due to dysfunction of hypothalamus-pitutary-ovarian axis (endocrine origine).[1] Abnormal menstrual bleeding pattern have been traditionally expressed by terms like menorrhagia, metrorrhagia, polymenorrhea, and oligomenorrhea. In order to create a universally accepted nomenclature to describe abnormal uterine bleeding, International federation of gynecology and obstetrics (FIGO) and American college of obstetrician and Gynecologists (ACOG) introduce newer system of terminology to describe AUB.

Occupational malignant neoplasms of the kidney and urinary tract

The epidemiological characteristics of many occupational lesions of the urinary tract organs remain poorly understood and unspecified, since they are described only as sporadic individual or group cases.&#x0D; Diseases arising from exposure to industrial carcinogens remain an urgent problem in occupational health. Unfortunately, today there is a low detection rate of occupational malignancies of any localization. Occupational oncological diseases with damage to the kidneys and urinary tract develop as a result of direct contact with a production factor with a carcinogenic effect.&#x0D; The analysis of the conducted studies devoted to the problem of occupational oncological lesions of the kidneys and urinary tract, the frequency of which remains underestimated due to their latent clinical course and the influence of environmental factors, which requires further study of this issue.&#x0D; For timely diagnosis of malignant neoplasms of the urinary system organs after reaching the length of service of five years, it is recommended to conduct an ultrasound examination of the kidneys and urinary tract and cystoscopy once every five years at the center of occupational pathology for persons working in contact with carcinogens.

Alveolodental trauma of the maxillary permanent incisors at Bouaké University Hospital (Côte d'Ivoire)

Introductiondental trauma, particularly to the maxillary permanent incisors, is relatively common at Bouaké University Hospital. The aim was to identify the epidemioclinical characteristics and distinguish the therapeutic methods. Material and methodsThis was a retrospective cross-sectional study carried out in the Odontostomatology and Maxillofacial Surgery Department of Bouaké University Hospital from 2015 to 2021. Alveolar-dental trauma of the maxillary permanent incisors was included in the study. Results346 subjects were enrolled, representing a prevalence of 20.99 % of all maxillofacial injuries. The mean age was 23.5 years (extremes 8 and 73 years) and the sex ratio was 3.55. Road traffic accidents were the cause of trauma in 250 cases (72.25 %), of which 213 (85.20 %) involved motorised 2-wheelers without helmets. Concurrent damage to the central and lateral incisors was observed in 178 cases (51.44 %). The dental organ was affected in 219 cases (63.29 %), the supporting tissue in 183 cases (52.89 %) and the bone tissue in 102 cases (29.48 %). Other associated craniofacial lesions were observed in 135 cases (39.02 %). For lesions of the dental support tissue, reduction and retention were performed in 39 cases (21.31 %). For lesions of the dental organ, dental avulsion was performed in 102 cases (46.58 %). For alveolar bone lesions, For alveolar bone lesions, reduction with maxillo-mandibular blocking was performed in 54 cases (52.94 %). Discussion: Alveolodental traumatic lesions of the maxillary permanent incisors are, in more than a third of cases, included in a multi-traumatic maxillofacial context, and can therefore very easily be relegated to secondary consideration. ConclusionThese traumas most often affect young patients, with major lesions that need to be treated as effectively as possible, at the risk of significant functional and aesthetic sequelae.

Особливості клінічного перебігу анапластичної крупноклітинної лімфоми в дітей. Клінічний випадок

Anaplastic large cell lymphoma (ALCL) is a rare type of T-cell non-Hodgkin lymphoma with a characteristic primary localized, mainly extra-bone marrow tumor growth of lymphoid tissue, the clinical picture of which includes lesions of peripheral lymph nodes and extranodal organs, such as bones, skin, lungs, liver, muscles which tissues and bone marrow. Purpose - to acquaint practicing doctors with the features of clinical manifestations, differential diagnosis and course of ALCL in children. Features of the clinical course of ALCL in a child are described. The main diagnostic value of the anamnesis, clinical picture, laboratory, instrumental, immunohistochemical and microscopic research methods, in particular trepan biopsy of this tumor, is highlighted. Microscopic examination of the tissue trepanbioptate show that in half of the cells of the bone marrow, its normal structure is revealed, hematopoietic bone marrow is present with the preservation of all sprouts, with a slightly increased number of megakaryocytes. Half of the cells are filled with solid layers of sharply atypical lymphocyte-like cells with a moderate amount of eosinophilic cytoplasm, the nuclei of tumor cells are large, vesicular, with the formation of 1-2 basophilic nuclei. In the tumor cells there are figures of mitosis, including atypical ones. Single hematopoietic cells of various germs are found between these cells. The conducted immunohistochemical study of tumor cells show that they are positive for common leukocyte antigen (CD4), negative for common cytokeratins, S-100, myogenin, MuoD1, which indicates their hematopoietic origin. Upon further examination, the tumor cells were positive for CD 30, negative for CD3, CD20, CD 43, CD 68, CD11c, tdt, myeloperoxidase, CD 1a. Staining for CD246 reveals a granular cytoplasmic reaction in tumor cells. The histological pattern and immunophenotype of tumor cells correspond to ALCL. The research was carried out in accordance with the principles of the Helsinki Declaration. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors.

Обструкция мочеточника при раке поджелудочной железы.

Introduction. Treatment of patients with pancreatic adenocarcinoma who have metastases in the ureter with subsequent hydroureteronephrosis is extremely rare in clinical practice. Only eight similar cases are on record in the scientific literature. No recent review exists on this topic. This encouraged us to present our review of cases of adenocarcinoma of the pancreas with ureteral metastasis, have been reported earlier. Aim. To systematize the existing knowledge and summarize the clinical experience in the diagnosis and treatment of ureteral obstruction in pancreatic cancer. Materials and methods. The results of the search in the scientific databases PubMed, on the scientific electronic library eLibrary.ru were analyzed for the following keyword queries: «ureter» (ureter), metastasis (metastasis), ureteral metastasis, pancreatic cancer (pancreatic adenocarcinoma), hydronephrosis (hydronephrosis). 59 relevant publications were selected, which were included in the literature review. Results. Metastatic tumors of the ureter are rare and are one of the rarest causes of ureteral obstruction. Most cases of metastatic ureteral cancer are asymptomatic and are a diagnostic finding at autopsy or in the presence of metastatic lesions of other organs. Metastases to the ureters are very rare, but they must be taken into account in the differential diagnosis when a patient with a malignant disease has X-ray signs of ureteral obstruction. The presence of metastases in the ureters may indicate the progression of, for example, pancreatic cancer. Morphological specificity of the ureters, namely: well-developed vascularization of the adventitial membrane and periureteral fiber, contributes to the most frequent primary metastatic lesion of these areas of the ureter. Conclusion. Although the prognosis in these cases is usually unfavorable, but at the same time, an earlier thorough examination followed by organ-specific treatment and resolution of ureteral obstruction can preserve kidney function and increase the chances of survival.

Molecular detection of bacteria from fish lakes in Wasit province

Fish products are very susceptible to microbial contamination, rendering them perishable thus challenging the customers health. The goal of this study was to determine the molecular identification and bacterial isolates diversity obtained from infected fish skin, gills, and fins obtained from lakes Alzarkan village in Wasit Province of Iraq during the period (October 2021- May 2022). A total of 50 fish were collected and 100 samples of organ lesions were taken. For bacterial identification, the tissuees of the fish were as cut with a sterile knife and blended in the buffered peptone water. Molecular identification and the obtained PCR product were are subjected to using the primers for Flavobacterium columnare, Edwardsiella ictaluri and Aeromonas salmonicida. Molecular analyseis revealed bacterial strains high proportion of Flavobacterium columnare identification was 20/50 (40%). The higher identification rates of Flavobacterium columnare in skin 10/20 (5%), in gills 7/20 (35%) and in fins 3/20 (15%). Accurate identification of the 20 isolated Flavobacterium columnare were confirmed by PCR. For identifying certain diseases, molecular approaches provided sensitive, rapid, and precise data without the need for time-consuming traditional techniques. The Edwardsiella ictaluri and Aeromonas salmonicida were not identified. While Flavobacterium columnare termed to be first molecular proof as a farmed fish pathogen in Iraq. Keywords: Molecular detection, Bacteria, Fish lakes, Wasit province, Iraq.

Back pain as a manifestation of Langerhans cell histiocytosis

Langerhans cell histiocytosis (LCH) is a neoplastic histiocytic disorder characterized by a broad spectrum of clinical manifestations, ranging from single organ lesions to a multi-systemic disease. Even though it is more common during the childhood, the incidence in adults is less defined and it may be misdiagnosed due to its clinical heterogeneity [1]. Main sites involved are bones (skull, vertebral bodies), lungs (typically in adult smokers) and skin (common in children). It is also important to assess the involvement of risk organs (liver, spleen or haemopoietic system) to determinate the severity of the diseas [2]. The definitive diagnosis requires a confirmation through histological and immunochemistry examinations, and molecular tests are also recommended to identify BRAF mutations and to estimate the prognosis and decide between different treatment strategies [3].

SC-UneXt: Nested UNeXt Architecture based on Medical Image Segmentation

UNet and its various variants are commonly used methods in medical image segmentation tasks; however, many network parameters, complex calculations, and slow usage are problems that need to be overcome. These problems hinder the specific application of fast image segmentation in real-time tasks. At the same time, the lesion area has problems such as small size, irregular shape, and blurred edges, which makes the network feature extraction difficult and the segmentation accuracy needs to be improved. At the same time, medical image segmentation provides a variety of effective methods for the accuracy and robustness of organ segmentation, lesion detection, and classification. Medical images have fixed structures, simple semantics, and diverse details, so integrating rich multi-scale features can improve segmentation accuracy. Given that the density of diseased tissue may be comparable to that of surrounding normal tissue, both global and local information are crucial to segmentation results. To this end, we propose an image segmentation method (SC -UNe X t) based on edge feature extraction and multi-scale feature fusion of convolutional multi-layer perceptron (MLP). The network is a deeply supervised encoder-decoder network, in which the encoder and decoder pass through a series of nested, multiple jump paths to reduce the semantic gap between the feature maps of the encoder and decoder sub-networks.; Multi - scale feature fusion is introduced based on the UNe Finally, we evaluate our model approach on the LIDC dataset public dataset. Experiments have proven the effectiveness of this method. Our model's similarity coefficient and intersection ratio reached 86.44% and 90.86% respectively. Compared with UNet and UNe X t, the network proposed in this article has improved in accuracy, intersection ratio of real values and predicted values, similarity coefficient, and segmentation effect.

Wegener's granulomatosis: difficulties in diagnosis and treatment

Granulomatosis with polyangiitis (Wegener's granulomatosis, GPA) is a rare disease of unknown etiology with multiple organ lesions, characterized by the development of necrotizing granulomatous inflammation and signs of autoimmune vasculitis, predominantly affecting small and medium-sized vessels. In the above clinical case, the patient has a classic triad of symptoms (damage to the upper respiratory tract, lungs, kidneys), the diagnosis was confirmed morphologically. The peculiarity of the described clinical case is its rare prevalence, the difficulty in making a diagnosis due to the multiorganism of the lesion, the absence of specific signs at the onset of the disease, which required a differential diagnosis. Early detection of antineutrophil cytoplasmic antibodies (ANCA) in the blood increases the frequency of GPA diagnosis, and timely diagnosis allows prescribing therapy as soon as possible and avoiding disability in patients.

β-defensin 2 protects against Escherichia coli-induced acute urinary tract infection by downregulating β-catenin

β-defensin 2 (BD2) is a small cationic peptide that exerts a critical role in host defense against bacterial infections. Here, we aimed to investigate the role of BD2 in protecting against acute urinary tract infection (AUTI) caused by Escherichia coli (UPEC). Here, LPS-induced human urinary bladder epithelial cell (HCV-29) model and UPEC-induced mice model were used for assessing AUTI. Visceral organ lesions of mice following treatment was assessed by HE staining. Cell viability was determined by CCK-8 assay. Permeability in HCV-29 cells was analyzed in Transwell assay. Expression of inflammatory factors (IL-1β, IL-6, and TNF-α) was measured by ELISA assay. The levels of BD2, β-catenin and tight-junction proteins (ZO-1, Occludin, and Claudin-1) were detected by RT-qPCR, western blotting, immunofluorescence or immunohistochemistry. Our results showed that BD2 was lowly expressed and β-catenin showed the reverse trend in response to bacterial infection in vitro and in vivo. BD2 overexpression alleviated the decreased cell viability, increased cell permeability, upregulation of inflammatory factors, downregulation of tight-junction protein and high β-catenin expression in LPS-induced HCV-29 cells, which may contribute to the negative regulation of β-catenin expression. Furthermore, BD2 overexpression attenuated the bacterial infection of tissues, high levels of inflammatory factors and β-catenin, and low levels of tight-junction proteins in mice stimulated with UPEC. This study showed that BD2 played a crucial role in protecting against AUTI caused by gram-negative bacteria through suppressing β-catenin expression. Targeting BD2 may provide a potential therapeutic approach for the prevention and treatment of AUTI.

History of the creation and activity of the Functional Neurology Research Unit over 30 years

Background: The Functional Neurology Research Unit (FNRU) was created in 1992 at the State University of Medicine and Pharmacy of the Republic of Moldova. The activity of the scientific unit was essentially based on the concept of Functional Neurology, which was published in an article in the prestigious Italian journal Functional Neurology (1998) and continues to be further developed by Professors I. Moldovanu and V. Vovc. Conclusions: Physiological aspects in the researches carried out by collaborators of the FNRU concerned research of breathing pattern, autonomic parameters of suprasegmental and segmental level (research of heart rate variability, segmental vegetative samples, etc.), reactivity of cerebral vessels to modeled hypocapnia, trigeminal, somesthetic, visual, auditory evoked potentials in patients with chronic headache, etc. To conclude, the scientific objectives of the research carried out by the collaborators of the Functional Neurology Research Unit during 30 years of activity – the development of the problem of identifying and using the huge, so far still insufficiently researched possibilities of the “reserves” of the human brain for therapeutic purposes (treatment of chronic pain, movement disorders as a result of organic brain lesions, autonomic disorders, etc.) in the context of a new, modern and advanced understanding of the relationship and interaction of the human brain, psyche and body within a social background which is the essence of the functional neurology.

Analysis of gene variation and long-term follow-up in children with phenylalanine hydroxylase deficiency diagnosed by newborn screening.

To retrospectively analyze the variation and characteristics of phenylalanine hydroxylase (PAH) gene, and to observe the long-term treatment effect and follow-up of newborns with PAH deficiency. Clinical data, treatment and follow-up results of 198 patients with PAH deficiency diagnosed by newborn screening in Jinan from 1996 to 2021 were collected. The genetic analysis of 55 patients with PAH deficiency diagnosed by newborn screening in Jinan and 213 patients referred from the surrounding areas of Jinan were summarized. Gene variations were checked by a customized Panel gene detection method. Blood phenylalanine-concentration and physical development indicators including height and weight were regularly monitored. Intellectual development was assessed using a neuropsychological development scale for patients aged 0-6 years and academic performance, and brain injury in patients was assessed using brain magnetic resonance imaging. c.728G>A, c.158G>A, c.721C>T, c.1068C>A, c.611A>G variations were common in PAH gene. The genotype of c.158G>A variation is compound heterozygous variation, with mainly a mild hyperpheny-lalaninemia. 168 patients with PAH deficiency who were followed-up regularly had normal physical development without dwarfism or malnutrition. Among the 33 preschool patients who underwent mental development assessment, 2 were mentally retarded and the initial treatment age was older than 6 months. Nine patients with an average age of (17.13±2.42) years completed brain magnetic resonance imaging, one case was normal, and 8 cases were abnormal. There were patchy or patchy hyperintense foci near the bilateral lateral ventricles on T2WI, and the intellectual development was normal. Compared with the other eight patients, the blood phenylalanine concentration of the normal child was better and stably controlled within the ideal range. c.728G>A, c.158G>A, c.721C>T, c.1068C>A, c.611A>G variations were common in PAH gene. After standardized treatment, most patients with PAH deficiency diagnosed by screening can obtain normal growth and intellectual development in adolescence, but there are different degrees of organic lesions in the cerebral white matter.

Effective rehabilitation of children with perinatal lesions of the central nervous system

BACKGROUND: Perinatal lesions of the central nervous system (CNS) prevail among other diseases of the nervous system in children, and are an economic burden on society and public health systems. The challenge in these cases is improving the quality of life of children with perinatal hypoxic pathology, which requires long-term nursing, treatment, and rehabilitation. The level of childhood disability remains consistently high, so improving the assistance to children with disabilities is an important state task.&#x0D; OBJECTIVE: The analysis of the results of rehabilitation treatment.&#x0D; MATERIALS AND METHODS: The study utilized 150 case histories of children with perinatal lesions of the CNS, all of whom underwent commercial rehabilitation. The study of the cards was carried out post rehabilitation, which typically spanned 30 days. The study included 85 (57.0%) boys and 65 (43.0%) girls. Congenital pathologies, perinatal encephalopathy, organic lesions of the CNS, and cerebral palsy were diagnosed in 19 (13.0%), 25 (17.0%), 36 (24.0%), and 69 (46.0%) cases, respectively. The rehabilitation process included hydrokinesitherapy, Vojta therapy, exercise therapy, and massage. The assessment on the effectiveness of rehabilitation was based discharge summaries, considering the results of an objective assessment and data from additional examination methods. At the end of treatment, a survey was conducted on 95 parents of the children to assess their satisfaction level in regards to the quality and effectiveness of the rehabilitation. The survey was conducted anonymously and on a voluntary basis.&#x0D; RESULTS: Positive dynamics was observed in 115 (77.0%) cases. In 27 (18.0%) cases, there was no dynamics, and in 8 (5.0%) cases, it was negative. The survey results showed that the average satisfaction score from visiting the rehabilitation center was 9.6 (the maximum possible level was 10). The estimates and results obtained differed in families with different social statuses.&#x0D; CONCLUSION: The study proved the importance and effectiveness of comprehensive rehabilitation for children with perinatal lesions of the CNS. It also emphasized the necessity of considering the medical and social characteristics of families raising such children.