Curious case of Retrosternal Colloid Goitre

Background: Retrosternal goitre is considered to be a rare entity. It is a slow growing enlargement of the thyroid gland which remains asymptomatic for many years. Symptoms are mainly due to compression of airways and oesophagus. Surgical management with the removal of the involved lobe is considered sufficient. Summary: Here we report a case of a 33 yrs. old lady who presented to us with complaints of neck pain, facial flushing, difficulty in breathing and vague body ache. Clinical examination was within normal limits. The patient was referred to orthopedician for further evaluation. MRI cervical spine was done which was suggestive of large swelling in left lobe of thyroid with retrosternal extension causing deviation of trachea to opposite side. FNAC was done which was inconclusive. The involved lobe was removed surgically with frozen section suggestive of Colloid goitre. Conclusion: Retrosternal goitre are slow growing enlargement of thyroid gland which may present with vague symptoms, best managed surgically often followed relief from the symptoms post-surgery.

Genetic polymorphism of ALDH2 in Indonesia’s Minang ethnic

Background: In some people, acetaldehyde, a toxic product from ethanol oxidation, cannot be oxidized to acetate. The excess of acetaldehyde could cause facial flushing, dizziness, and hypertension when they consume ethanol. This ethanol sensitivity is caused by a deficiency of ALDH2. Objective: This study aims to analyze and count the polymorphism frequency of the ALDH2 gene in Indonesia’s Minang ethnic. Methods: DNA samples were taken randomly from hair bulbous of 60 subjects (male and female, 3rd generation). A nested polymerase chain reaction was conducted to amplify the ALDH2 in the samples. Afterward, restriction fragment length polymorphism (RFLP) was conducted to the amplicons using the EcoRI restriction enzyme. The measured parameters were the distribution of the wildtype, atypical homozygote, and heterozygote. Results: Results showed that out of 60 subjects, 53.33% have an atypical homozygote gene (subjects prone to hypersensitive to alcohol), 28.33% have a heterozygote gene, and 18.33% have a wildtype gene. The frequency of the atypical alleles in Minang ethnic is 0.675. Conclusion: The atypical ALDH2 allele was much higher than the normal ALDH2 allele, in which most participants have atypical homozygote ALDH2, suggesting the samples are sensitive to alcohol.

The efficacy and safety of antimuscarinics for the prevention or treatment of catheter-related bladder discomfort: a systematic review and meta-analysis of randomized controlled trials

Objectives This meta-analysis aimed to evaluate the efficacy and safety of antimuscarinics for the prevention or treatment of catheter related bladder discomfort (CRBD). Methods The MEDLINE, EMBASE, and Cochrane Controlled Trials Register (from 1987 to July 2021) were used to search randomized controlled trials. The PRISMA checklists were followed. RevMan5.4.0 was used for statistical analysis. Results Eleven studies involving 1165 patients were involved in the analysis. The study reported that the incidence of CRBD observed in the antimuscarinics group was significantly lower than that of the control group at 0-, 1-, 2-, and 6-h after drug therapy (P = 0.001, P < 0.0001, P = 0.0005, and P = 0.001, respectively). For side effects, there were not statistical differences between the antimuscarinics group and the control group, mainly including dry mouth (risk ratio (RR) = 1.31, 95% confidence interval (CI) = 0.95 to 1.80, P = 0.09), postoperative nausea and vomiting (RR = 1.02, 95% CI = 0.55 to 1.90, P = 0.87), facial flushing (RR = 1.06, 95% CI = 0.43 to 2.61, P = 0.90), and blurred vision (RR = 0.95, 95% CI = 0.35 to 2.58, P = 0.91). Besides, rescue analgesics were required less in the antimuscarinics group than in the control group (RR = 0.51, 95% CI = 0.32 to 0.80, P = 0.003). Conclusions Compared with the control group, the antimuscarinics group had a significant improvement on CRBD, the patients were well tolerated and the use rate of rescue analgesics was low.

Combinations of alcohol-induced flushing with genetic polymorphisms of alcohol and aldehyde dehydrogenases and the risk of alcohol dependence in Japanese men and women

Objective The risk of alcohol dependence (AD) in Japanese men and women was evaluated according to combinations of alcohol flushing and aldehyde dehydrogenase-2 (ALDH2, rs671) and alcohol dehydrogenase-1B (ADH1B, rs1229984) genotypes, all of which are known to determine AD susceptibility in Asians. Previous studies have focused on men, since women account for a smaller proportion of AD subjects. Methods Case control studies were conducted between 3721 male and 335 female AD Japanese and 610 male and 406 female controls who were asked about their current or former tendency to experience facial flushing after drinking a glass of beer and underwent ALDH2 and ADH1B genotyping. The time at which alcohol-induced facial flushing tendencies had disappeared in former-flushing AD subjects was also evaluated. Results Current alcohol flushing, the inactive ALDH2*1/*2 genotype, and the fast-metabolizing ADH1B*2 allele were less frequently found in the AD groups. Although alcohol flushing was strongly influenced by the ALDH2 and ADH1B genotypes, multiple logistic model showed that never or former flushing and the genotype combinations were independent strong risk factors of AD in men and women. Never or former flushing (vs. current flushing) markedly increased the odds ratios of AD in carriers of each of the ALDH2 and ADH1B genotype combinations. The temporal profiles for drinking and flushing in former-flushing AD subjects revealed that the flushing response disappeared soon after or before the start of habitual drinking during young adulthood, regardless of the ALDH2 genotype. Conclusion Although alcohol flushing is influenced by the ALDH2 and ADH1B genotypes, constitutional or acquired flushing tolerance is an independent susceptibility trait for AD. The combination of the alcohol flushing status and the ALDH2 and ADH1B genotypes can provide a better new strategy for AD risk assessment than the alcohol flushing status alone or the genotypes alone in Asian men and women.

Jaw Keratocysts and Sotos Syndrome

Sotos syndrome, described by Sotos et al. [1], is characterized by excessive growth during childhood, macrocephaly, distinctive facial appearance and learning disability. The disorder is largely caused by mutations or deletions in the NSD1 gene. The typical facial gestalt includes macrodolichocephaly with frontal bossing, front-parietal sparseness of hair, apparent hypertelorism, down slanting palpebral fissures, and facial flushing. This paper discusses a case of Sotos syndrome in an adolescent male with multiple odontogenic keratocysts in his jaw bones, a previously unreported oral manifestation, out with a syndromic context.

“Micro Botulinum Toxin” for the Treatment of a Deep Dermal Burn After Single IPL and a Second Combined IPL/Nd: YAG Laser Treatment for Skin Rejuvenation and Discoloration

Botulinum toxin (BTX) is a neurotoxin derived from the Clostridium botulinum bacterium that inhibits the release of acetylcholine at the neuromuscular junction. Botox is not new, and it has been used for many years to treat a variety of muscular/neuromuscular conditions and now more popularly for cosmetic use. Botulinum toxins use has been experimented in some dermatological conditions, which include Rosacea and facial flushing treatment with positive outcomes. The complex mechanism underlying those results is not completely understood but was proposed that a release inhibition of acetylcholine from peripheral autonomic nerves of the cutaneous vasodilatory system combined with the blockade of substance P and calcitonin gene-related peptide (CGRP), thus modulating vasodilatation of blood vessels as the likely mechanism of action. In cosmetic and aesthetic medicine, thermal burns from laser-type treatments are the number 1 lawsuit in this field. However, seldom are reports shared on management of these patient’s burns. This is a case report of such a patient who had a deep dermal burn after 2 consecutive treatments for the goal of correcting skin discoloration and sun damage.