Microcephaly in Neurometabolic Diseases

Neurometabolic disorders are an important group of diseases that mostly occur in neonates and infants. They are mainly due to the lack or dysfunction of an enzyme or cofactors necessary for a specific biochemical reaction, which leads to a deficiency of essential metabolites in the brain. This, in turn, can cause certain neurometabolic diseases. Disruption of metabolic pathways, and the inhibition at earlier stages, may lead to the storage of reaction intermediates, which are often toxic to the developing brain. Symptoms are caused by the progressive deterioration of mental, motor, and perceptual functions. The authors review the diseases with microcephaly, which may be one of the most visible signs of neurometabolic disorders.

Clinical characteristics and outcome of genitourinary tuberculosis in Sri Lanka: an observational study

Background Although genitourinary Tuberculosis (GUTB) is the second commonest source of extrapulmonary TB in most countries, the reported rate of GUTB in Sri Lanka remains low. The characteristics of GUTB in Sri Lanka have not been studied and documented so far. We aimed to study the clinical and imaging characteristics, treatment modalities and outcome of GUTB in Sri Lanka. Methods Data collected from patients treated by a single urological surgeon in two institutes consecutively over a period of 21 years were analysed. All patients with a microbiological and/or histopathological diagnosis of GUTB were included. Median duration of follow-up was 24 months (range: 6–96). Results There were 82 patients and 45 (54.9%) were men. The median age was 51 (range: 26–75) years. Most patients (39%, n = 32) had vague non-specific symptoms at presentation. Common specific symptoms at presentation were haematuria (15.8%, n = 13) and scrotal manifestations (15.8%, n = 13). Mantoux test was done in 70 patients and was > 10 mm in 62 (88.5%). Erythrocyte sedimentation rate was available in 69 patients and was > 30 mm in 54 (78.3%) patients. Chest x-ray and x-ray kidney-ureter-bladder (KUB) abnormalities were detected in 9 (11%) and 6 (7.3%) respectively. CT-urography was performed in 72 patients and abnormalities were detected in 57 (79%) patients. Forty-two patients underwent cystoscopy and 73.8% (n = 31) had abnormal findings. Microbiological diagnosis was feasible in 43 (52.4%) and rest were diagnosed histopathologically. Commonest organs involved were kidney (64.6%, n = 53), ureter (51.2%, n = 42), bladder (43.9%, n = 36) and testis/epididymis (15.8%, n = 13). One patient had TB of the prostate. All were treated primarily with anti-TB drugs however, 50 (61%) required ancillary therapeutic interventions. The majority of interventions were reconstructive surgeries (n = 20, 24.4%) followed by excisional surgeries (n = 19, 23.2%) and drainage procedures (n = 11, 13.4%). Seven patients developed serious adverse reactions to anti-TB drugs. Five patients developed a thimble bladder with disabling storage symptoms. Eight patients had deranged renal functions at diagnosis and three patients developed progressive deterioration of renal function and two patients died of end stage renal disease. Conclusions The combination of urine for acid-fast bacilli, Mantoux test, CT-Urography, cystoscopy and histopathology is necessary to diagnose GUTB in resource-poor settings. Most ureteric strictures, non-functioning kidneys and epididymal masses need surgical treatment. Long-term follow up is essential to detect progressive deterioration of renal function.

Anatomy and Histologic of Intrinsic Aging Skin

Aging is an inevitable and dynamic biological process that is characterized by the progressive deterioration of body systems and declines in physiological reserve capacity. Aging skin has distinct two types: intrinsic and extrinsic. Intrinsic changes reduce collagen production, blood flow, amount of skin lipid, and loss of rete ridges. Intrinsic aging or chronological aging is cannot be restored to the skin with characterized by sagging skin and some expression of excess wrinkling lines. Intrinsic aging changes in thickness and characteristics of the epidermis, dermis, and hypodermis. Histologically, epidermis thinner by leveling off the dermo-epidermal junction. In the dermis, collagen fibers become thicker and irregular than younger skin, reducing the elasticity of the skin, while hypodermis reduces lipid volume.

Socio-Economic and Political Challenges of EU Member Countries: Grasping the Policy Direction of the European Semester

The European Semester (ES) and the country-specific recommendations (CSRs) have been introduced with the purpose to promote flexibility and adaptation to national circumstances in the governance of fiscal policies. To assess whether the ES has contributed to reconcile economic and social objectives, we measured, through the distance to frontier (DTF) score methodology, the distance of each member country from a benchmark based on EU aims and values defined in the EU treaties. Results show that EU member countries are far from the benchmark and CSRs have not prevented a progressive deterioration of stability and cohesion from an economic, political and social perspective. A content analysis of the CSRs issued from 2011 to 2018 and a comparison with the DTF scores reveal a weak connection between member countries’ performance and CSRs. Despite the social content of many CSRs, we actually observe a “commodification” of their goals. CSRs promote a society functional to flexible and competitive markets, and compatible with the requirements of fiscal discipline and sustainability. This neoliberal approach apparently played a role in the EU deterioration and makes the “socialization” of the ES a process with ambiguous implications for European citizens.

565 Predictors of Single Versus Multi-Level Lumbar Spinal Fusion: A Retrospective Cohort Study

Aim Degenerative spine disease (DSD) of the lumbar spine is a common disorder among the aging population in the world, with a substantial humanistic and economic burden. Although lumbar spinal fusion is currently the mainstay surgical management of DSD, surgery is also associated with adjacent segment disease due to the modification of spinal biomechanics. Therefore, it is important to identify potential risk factors of DSD in order to prevent progressive deterioration and provide early intervention before the surgical option is absolutely necessary. Method Adult patients who underwent posterior lumbar spinal fusion from 2006-2016 were identified via OPCS-4codes. Smoking status, weight, age of operation, gender, diagnosis of ischaemic heart disease (IHD) were obtained via TrakCare®. The degree of deprivation was extrapolated using the Scottish Index of Multiple Deprivation (SIMD) 2020 quintile score. Data were analysed using logistic regression. Results In total, 313 met inclusion criteria and had data available, of which 205 and 108 patients underwent single and multi-level lumbar fusion respectively. Within the study population, 66.8% (206) and 33.2% (104) were female and male. Adjusted for all outcome measures, age of operation achieved statistical significance (p = 0.040). There was a 1.021-fold increase in risk of multi-level spinal fusion with each additional year of age. Weight was approaching statistical significance (p = 0.068). Conclusions Lumbar spinal health declines over time, but some patients experience more progressive deterioration. While some components of the spine are irreparable, early prescription of regimented exercise programs may strengthen spinal musculature to maintain a healthy sagittal balance, particularly in older, overweight, female patients.

Inheritance vs. infectivity as a mechanism of malady and death of Frederic Chopin

Based on a macroscopic analysis of the heart of Frederic Chopin performed in 2014, it can be stated with high probability that the composer suffered from a long lasting tuberculosis as a primary disease, which was the cause of progressive deterioration of his physical condition and numerous symptoms mainly from the respiratory tract. Tuberculous pericarditis rapidly progressing within a rather short period of time, a relatively rare complication of diffuse tuberculosis, might have been an immediate cause of death. This would aptly coincide with a startling opinion that in an autopsy picture the composer’s heart had been more affected by the disease than the lungs.

Study on the Progressive Deterioration of Tunnel Lining Structures in Cold Regions Experiencing Freeze–Thaw Cycles

The linings of tunnels in cold regions with long service lives usually have cracks, with parts of the structure peeling and falling off, which seriously threatens the tunnel safety and operation. The unsaturated freeze–thaw cycle of concrete, which is the main cause of structural deterioration, has not received much research attention. During the service life of tunnels in cold regions, unsaturated freeze–thaw cycles deteriorate the quality of the concrete, and its degree presents a gradual distribution in the circumferential and longitudinal directions. An experiment system was adopted to simulate the distribution of the progressive deterioration of tunnel lining concrete. The test results of the temperature field of the model show the distribution law of freeze–thaw cycles, and the gradual deterioration of the lining concrete was realized. Then, the bearing capacity of the model was tested after the progressive deterioration. The results show that the ultimate load of the model decreases with an increase in the number of freeze–thaw cycles. Finally, a numerical simulation was carried out to discuss the influence of the gradual deterioration of the lining. The gradual deterioration of lining concrete will encourage the gradual development of cracks, leading to serious cracking of the lining structure and even block spalling. Through this study, we hope to provide useful information for the prevention and control of tunnel frost damage in cold regions.