Achalasia is a chronic idiopathic disease characterized by the absence of esophageal body peristalsis and by defective lower esophageal sphincter (LES) relaxation. The incidence rate ranges from 1.07 to up to 2.8 new cases per year per 100,000 population. Presenting symptoms include dysphagia, regurgitation, vomiting, and weight loss. The diagnosis of achalasia has undergone a revolution in the last decade due to the advent of high-resolution manometry (HRM) and the consequent development of the Chicago Classification. Recent progress has allowed achalasia to be more precisely diagnosed and to be categorized into three subtypes, based on the prevalent manometric features of the esophageal peristalsis. Treatment options are pharmacotherapy, endoscopic management (Botox injection or pneumatic dilation), and surgery, e.g. laparoscopic Heller myotomy (LHM). More recently, a new endoscopic technique, per oral endoscopic myotomy (POEM), has developed as a less invasive approach alternative to the traditional LHM. Since the first POEM procedure was performed in 2008, increasing evidence is accumulating regarding its efficacy and safety profiles. Currently, POEM is being introduced as a reasonable therapeutic option, though randomized controlled trails are still lacking. The current review sheds light onto the diagnosis and manage¬ment of achalasia, with special focus on the recent advances of HRM and POEM.
All natural animals and plants are holobionts, consisting of the host and microbiome, which is composed of abundant and diverse microorganisms. Health and disease of holobionts depend as much on interactions between host and microbiome and within the microbiome, as on interactions between organs and body parts of the host. Recent evidence indicates that a significant fraction of the microbiome is transferred by a variety of mechanisms from parent to offspring for many generations. Genetic variation in holobionts can occur in the microbiome as well as in the host genome, and it occurs more rapidly and by more mechanisms in genomes of microbiomes than in host genomes (e.g. via acquisition of novel microbes and horizontal gene transfer of microbial genes into host chromosomes). Evidence discussed in this review supports the concept that holobionts with their hologenomes can be considered levels of selection in evolution. Though changes in the microbiome can lead to evolution of the holobiont, it can also lead to dysbiosis and diseases (e.g. obesity, diarrhea, inflammatory bowel disease, and autism). In practice, the possibility of manipulating microbiomes offers the potential to prevent and cure diseases.
Stents are widely use in endoscopic urological procedures. One of the most important indications is the treatment of urinary tract strictures. Allium™ Medical has introduced several types of stents for the treatment of different types of urinary tract strictures, based on anatomic location. All the stents are made of nitinol and coated with a co-polymer that reduces encrustations. These stents are self-expandable and have a large caliber and a high radial force. They have different shapes, designed especially for the treatment of each type of stricture. One of the most important features of Allium-manufactured stents is the ease of removal, due to their special unraveling feature. The company has introduced the Bulbar Urethral Stent (BUS) for treatment of bulbar urethral strictures; a rounded stent available in different lengths. Initial data on 64 patients with bulbar urethral stricture treated with the BUS showed a significant improvement in symptoms, with minimal complications and few adverse events. For treatment of prostate obstruction in patients unfit for surgery or unwilling to undergo a classical prostatic surgery, the Triangular Prostatic Stent (TPS) was introduced, which has a triangular shape that fits in the prostatic urethra. Its body has a high radial force attached to an anchor (which prevents migration) through a trans-sphincteric wire (which reduces incontinence rate). Initial data on 51 patients showed significant improvement in symptoms and in urinary peak flow rate, with a relatively small number of complications. The Round Posterior Stent (RPS) was designed for treatment of post radical prostatectomy bladder neck contracture. This short, round stent has an anchor, which is placed in the bladder neck. This stent being relatively new, the clinical data are still limited. Ureteral strictures can be treated with the Ureteral Stent (URS), which is round-shaped, available in different lengths, and has an anchor option (for very distal or very proximal strictures). We have previously published data on 107 URSs inserted in patients with ureteral stricture due to several etiologies, including patients who failed previous treatment. All patients were asymptomatic for a long period of follow-up after stent removal, with only one case of re-stenosis. In this paper, we review the urological “covered” stents produced by Allium Medical with the relevant clinical data available at the present time.
Gaucher disease (GD) is an autosomal recessive disease characterized by the buildup of glucocerebrosides in macrophages, resulting in the formation of “Gaucher cells.” These cells predominantly infiltrate the liver, spleen, and bone marrow leading to hepatosplenomegaly, cytopenia, and bone pain. Anemia in GD is typically considered to result from non-hemolytic processes. Although rare, a higher rate of hemolytic anemia of the autoimmune type has been reported in GD than in the general population. The literature on non-immune hemolytic anemia in GD is scarce. We review the literature on hemolytic anemia in GD and report on a case of non-immune hemolytic anemia secondary to GD. We believe this is the first description of a patient with confirmed GD and symptomatic non-immune hemolytic anemia that responded to GD-specific treatment.
This review examines the risk of developing celiac disease (CD) and other autoimmune diseases in individ¬uals receiving the rotavirus (RV) vaccine compared to the normal population. Celiac disease is a malabsorp¬tive, chronic, immune-mediated enteropathy involving the small intestine. The pathogenesis of CD is multifactorial, and mucosal immunity plays an important role in its development. Low mucosal IgA levels significantly increase the risk of developing the disease. Rotavirus is an infectious agent that causes diar¬rhea, particularly in children aged 0–24 months, and is frequently involved in diarrhea-related deaths in these children. An oral vaccine against RV has been developed. While it is effective on RV infection, it also contributes to increasing mucosal immunity. Studies have indicated that individuals immunized with the RV vaccine are at lower risk of developing CD than unvaccinated individuals. In addition, the mean age for developing CD autoimmunity may be higher in the vaccinated group than in controls receiving placebo. Additional studies that include children immunized with different RV vaccines and unvaccinated children would provide more meaningful results. Although current data suggest a possible association of RV vaccina¬tion with a reduced risk of developing CD and other autoimmune diseases, this remains an unanswered question that merits greater international investigation.
Objectives: To study the correlation between the putative cancer stem cell (CSC) markers aldehyde dehydrogenase 1 (ALDH1), cluster of differentiation 44 (CD44), sex-determining region Y-box 2 (SOX2), and octamer-binding protein 4 (OCT4) and human papilloma virus (HPV) infection using p16, the surrogate marker of HPV in oral epithelial dysplasia (OED) and normal mucosa.
Methods: Five sections each from 40 histopathologically diagnosed cases of different grades of OED and 10 cases of normal oral mucosa without dysplasia were immunohistochemically stained with p16, ALDH1, CD44, SOX2, and OCT4, respectively.
Results: Expression of ALDH1 and SOX2 was significantly increased in OED cases, whereas CD44 and OCT4 expression was increased in normal mucosa. P16-positive OED cases showed upregulation of ALDH1 and OCT4 expression as compared to p16-negative cases, while CD44 and SOX2 expression was downregulated in p16-positive OED cases; however, the results were not statistically significant.
Conclusion: The present study indicated a suggestive link between p16 and cancer stem cell marker expression in HPV-associated OED, and that p16 has a significant role in CSC progression in OED. This is the first study to evaluate the expression of putative CSC markers in HPV-associated OED. However, low study numbers are a potential limiting factor in this study.
Introduction: Microvasculopathy is characterized by progressive structural and functional damage to the microvessels and plays a key role in the pathogenesis of various connective tissue diseases (CTD). Nailfold videocapillaroscopy is an optimal and validated method for analysis of microvascular abnormalities and is able to differentiate secondary Raynaud’s phenomenon (RP) of CTD from primary RP and healthy subjects.
Aim: To assess and analyze nailfold capillaroscopic findings in Indian subjects with secondary Raynaud and to compare with findings in healthy subjects.
Methods: A total of 62 study participants including cases and controls underwent nailfold videocapil-laroscopy. Capillary loop length, capillary width, capillary density, presence/absence of tortuosity, giant loops, neoangiogenesis, microhemorrhages, and avascular areas were the parameters studied.
Results: All the quantitative and qualitative parameters studied were significantly associated with second¬ary RP. Mean loop length in cases of connective tissue diseases was significantly less than in the controls (225.74 µm versus 282.97 µm) (P=0.002). Capillary density was also reduced significantly in the cases as compared to the controls (4.6 versus 7.39/mm) (P<0.01), whereas it was markedly decreased in systemic sclerosis (SSc) and mixed connective tissue diseases (MCTD), and near normal in systemic lupus erythematosus (SLE). Tortuosity was the most frequent (77.4%) qualitative parameter. Scleroderma pattern was found in 62.5% of patients with SSc and in 60% with MCTD. Non-specific pattern was found in 80% of SLE cases and 50% of dermatomyositis cases.
Conclusion: Both quantitative and qualitative capillaroscopic changes are significantly associated with secondary RP. Scleroderma pattern was predominant in SSc and MCTD, whereas non-specific pattern was predominantly found in SLE and dermatomyositis.
Today, in the 21st century, most people are aware of the term genocide. However, few people are aware that this term only entered the English language in the 1940s, as a result of the dedicated work of a brilliant and successful man who deprived himself of a private family life so that he could be free to fight for his ideas. Although Raphael Lemkin was instrumental in the recognition of genocide by the United Nations, he died too early and was buried with no honor. This paper reviews the life and work of Raphael Lemkin, and his triumph in seeing genocide recognized as a crime.
In the management of malignant thyroid disorders, the standard primary treatment is thyroidectomy, a surgical resection of the thyroid gland. This procedure has been performed for over a century. Hence, it comes as no surprise that it is not only exceedingly well-described in the literature. This issue of Rambam Maimonides Medical Journal includes an article by Chaturvedi et al. that challenges the standard widely-practiced clinical inclination toward surgery as the first and best option for all patients with early thyroid cancer. This editorial discusses the issues raised by the authors and points out the importance of ongoing research to determine when standards of care should be modified in the light of low-risk disease.
Background and Objective: Liver enzyme abnormalities (LEA) are extremely common and sometimes severe in individuals infected with human immunodeficiency virus (HIV), but data for this disorder are lacking in the developing countries. The objective of this study was to identify factors associated with LEA in HIV–hepatitis B virus (HBV)/hepatitis C virus (HCV) co-infected patients in Kinshasa, Democratic Republic of the Congo.
Methods: This cross-sectional analytical study included 180 people living with HIV (PLWHIV) mono-infected or co-infected with HBV/HCV between November 10, 2013 and January 10, 2014 in Kinshasa. Sociodemographic, clinical, biological, serological, and immunological data were analyzed. Levels of serum glutamate oxaloacetate transferase (SGOT) and serum glutamate pyruvate transaminase (SGPT) were determined. Antibody levels were determined using enzyme-linked immunosorbent assay (ELISA).
Results: The mean age of patients was 44.2±11.0 years; female sex was predominant (76.7%). Co-infection, mainly with HBV, but also HCV, was found in 43 (23.9%) patients. Elevated liver enzymes were found in 77 (42.8%) of the patients. No difference was found in the rate of liver enzyme abnormalities between patients with HIV mono-infection or HIV co-infection (46.7% versus 30.2%, respectively; P=0.08). Factors associated with LEA were age ≥50 years (adjusted odds ratio [OR] 2.7; 95% CI 1.4–5.5), duration of HIV infection >3 years (adjusted OR 2.7; 95% CI 1.4–5.5), and CD4 count ≤303 cells/mm³ (adjusted OR 2.2; 95% CI 1.1–4.5).
Conclusions: Liver enzyme abnormalities are frequent in patients co-infected with HIV–HBV/HCV as well as in HIV patients without co-infection. Diagnosis is determined based on age, immunodeficiency, and length of illness.
