Disease-specific Treatment Research Articles

Improving Shared Decision Making in Vascular Surgery: A Stepped Wedge Cluster Randomised Trial

Different treatment options are available and feasible for various vascular surgical disorders. Hence, vascular surgery seems an area par excellence for shared decision making (SDM), in which clinicians incorporate the patient's preferences into the final treatment decision. However, current SDM levels in vascular surgical outpatient clinics are below expectations. To improve this, different decision support tools (DSTs) have been developed: online patient decision aids, consultation cards, and decision cards. This stepped wedge cluster randomised trial was conducted in 13 Dutch hospitals. Besides the developed DSTs, training on how to apply SDM during the clinician patient encounter was used in this study. Data were obtained via questionnaires and audio recordings. The primary outcome was the OPTION-5 score, an objective tool to assess the level of SDM, expressed as a percentage of exemplary performance. Main secondary outcomes were patients' disease specific knowledge, consultation duration, and treatment choice. Factors influencing OPTION-5 scores were studied using linear regression analysis. Included in the study were 342 patients with an abdominal aortic aneurysm (AAA; n= 87), intermittent claudication (IC; n= 143), or varicose veins (VV; n= 112). Audiotapes of 395 consultations were analysed. Overall the mean OPTION-5 score significantly improved from 28.7% to 37.8% (mean difference 9.1%, 95% CI 6.5% - 11.8%) after implementation of the DSTs. Also, patient knowledge increased significantly (median increase: 13%, effect size: 0.13, p= .025). The number of patients choosing non-surgical treatment choices increased, with 21.4% to 28.8% for patients with AAA and doubled (16.0% to 32.0%) among patients with IC. For surgeons, the SDM training and for patients the decision aid significantly and independently increased OPTION-5 scores (p < .001 and p= .047, respectively). Introducing DSTs improves the level of shared decision making in vascular surgery, improves patient knowledge, and shifts their preference towards more non-surgical treatments. The SDM training for clinicians and the decision aid for patients appeared the most effective means of improving SDM. NTR6487.

Corticosteroids and Other Treatments Administered to Children Tested for SARS-CoV-2 Infection in Emergency Departments.

ObjectiveWe sought to determine if corticosteroid administration is associated with a SARS-CoV-2 nucleic acid test-positive result and to describe therapies administered to SARS-CoV-2 infected children.MethodsWe collected cross-sectional data from participants recruited in 41 pediatric emergency departments (ED) in 10 countries between March 2020 and June 2021. Participants were <18 years old, had signs or symptoms of, or risk factors for acute SARS-CoV-2 infection, and had nucleic acid testing performed. To determine if SARS-CoV-2 test status was independently associated with corticosteroid administration, we used a multivariable conditional logistic regression model matched by study site to compare treatments administered based on SARS-CoV-2 test and disposition status. This analysis was repeated for the subgroup of study participants who were hospitalized.Results30.3% (3,121/10,315) of participants were SARS-CoV-2-positive. Although remdesivir was more commonly administered to SARS-CoV-2-positive children, use was infrequent (25/3120 [0.8%] vs 1/7188 [0.01%]; P = .001). Corticosteroid use was less common among SARS-CoV-2-positive children (219/3120 [7.0%] vs 759/7190 [10.6%]; P < .001). Among hospitalized children, there were no differences in provision of inotropes, respiratory support, chest drainage or extracorporeal membrane oxygenation between groups. Corticosteroid administration was associated with age, history of asthma, wheezing, study month, hospitalization and intensive care unit admission; it was not associated with a positive SARS-CoV-2 test result overall (aOR: 0.91; 95%CI: 0.74, 1.12) or among the subgroup of those hospitalized (aOR: 1.04; 95%CI: 0.75, 1.44).ConclusionsFew disease-specific treatments are provided to SARS-CoV-2-positive children; clinical trials evaluating therapies in children are urgently needed.

Antibody response to COVID-19 vaccine in 130 recipients of hematopoietic stem cell transplantation.

We evaluated anti-spike protein antibody (anti-S) production in 130 hematopoietic stem cell transplant (HSCT) recipients who received the coronavirus disease-2019 vaccine. Sixty-five received allo-HSCT and 65 received auto-HSCT. Disease-specific treatments were being administered to 43.1% of allo-HSCT and 69.2% of auto-HSCT patients. Seropositivity was observed in 87.7% of allo-HSCT and 89.2% in auto-HSCT patients. Anti-S antibody production was significantly impaired in auto-HSCT patients compared with controls (178U/mL [0.4–4990.0] vs. 669 U/mL [40.3–4377.0], p < 0.001), but not in allo-HSCT patients (900 U/mL [0.4–12,893.0] vs. 860 U/mL [40.3–8988.0], P = 0.659). Clinically relevant anti-S antibody levels (> 264 U/mL) were achieved in 59.2% of patients (76.9% in allo-HSCT and 41.5% in auto-HSCT). The main factors influencing the protective level of the antibody response were the CD19 + cell count and serum immunoglobulin G levels, and these were significant in both allo-HSCT and auto-HSCT patients. Other factors included time since HSCT, complete remission status, use of immunosuppressive drugs, and levels of lymphocyte subsets including CD4, CD8 and CD56 positive cells, but these were only significant in allo-HSCT patients. Allo-HSCT patients had a relatively favorable antibody response, while auto-HSCT patients had poorer results.Supplementary InformationThe online version contains supplementary material available at 10.1007/s12185-022-03325-9.

Postauthorization safety study of betaine anhydrous

Patient registries for rare diseases enable systematic data collection and can also be used to facilitate postauthorization safety studies (PASS) for orphan drugs. This study evaluates the PASS for betaine anhydrous (Cystadane), conducted as public private partnership (PPP) between the European network and registry for homocystinurias and methylation defects and the marketing authorization holder (MAH). Data were prospectively collected, 2013-2016, in a noninterventional, international, multicenter, registry study. Putative adverse and severe adverse events were reported to the MAH's pharmacovigilance. In total, 130 individuals with vitamin B6 nonresponsive (N=54) and partially responsive (N=7) cystathionine beta-synthase (CBS) deficiency, as well as 5,10-methylenetetrahydrofolate reductase (MTHFR; N=21) deficiency and cobalamin C (N=48) disease were included. Median (range) duration of treatment with betaine anhydrous was 6.8 (0-9.8) years. The prescribed betaine dose exceeded the recommended maximum (6g/day) in 49% of individuals older than 10 years because of continued dose adaptation to weight; however, with disease-specific differences (minimum: 31% in B6 nonresponsive CBS deficiency, maximum: 67% in MTHFR deficiency). Despite dose escalation no new or potential risk was identified. Combined disease-specific treatment decreased mean ± SD total plasma homocysteine concentrations from 203 ± 116 to 81 ± 51 μmol/L (p < 0.0001), except in MTHFR deficiency. Recommendations for betaine anhydrous dosage were revised for individuals ≥ 10 years. PPPs between MAH and international scientific consortia can be considered a reliable model for implementing a PASS, reutilizing well-established structures and avoiding data duplication and fragmentation.

Shedding light on the phenotypic\u2013genotypic correlation of rare treatable and potentially treatable pediatric movement disorders

BackgroundAdvances in genetic science have led to the identification of many rare treatable pediatric movements disorders (MDs). We explored the phenotypic–genotypic spectrum of pediatric patients presenting with MDs. By this, we aimed at raising awareness about such rare disorders, especially in our region. Over the past 3 years, we reviewed the demographic data, clinical profile, molecular genetics and other diagnostic workups of pediatric patients presenting with MDs.ResultsTwelve patients were identified; however, only six patients were genetically confirmed. The phenomenology of MDs ranged from paroxysmal kinesigenic choreoathetosis (1 patient), exercise-induced dyskinesia (2 patients), ataxia (2 patients) and dystonia (2 patients). Whole-exome sequencing in addition to the functional studies for some patients revealed a specific genetic diagnosis being responsible for their MDs. The genetic diagnosis of our patients included infantile convulsions and paroxysmal choreoathetosis syndrome and episodic ataxia due to “pathogenic homozygous mutation of PRRT2 gene,” glucose transporter type 1 deficiency-exercise induced dyskinesia due to “De Novo pathogenic heterozygous missense mutation of exon 4 of SLC2A1 gene,” aromatic L amino acid decarboxylase deficiency due to “pathogenic homozygous mutation of the DDC gene,” myopathy with extrapyramidal signs due to “likely pathogenic homozygous mutations of the MICU1 gene,” mitochondrial trifunctional protein deficiency due to “homozygous variant of uncertain significance (VUS) of HADHB gene” and glutaric aciduria II with serine deficiency due to “homozygous VUS for both ETFDH and PHGDH genes.” After receiving the treatment as per recognized treatment protocols, two patients showed complete resolution of symptoms and the rest showed variable responses.ConclusionIdentifying the genetic etiology of our patients guided us to provide either disease-specific treatment or redirected our management plan. Hence, highlighting the value of molecular genetic analysis to avoid the diagnostic odyssey and identify treatable MDs.

Therapeutic Small Interfering RNA Targeting Complement C3 in a Mouse Model of C3 Glomerulopathy.

Alternative pathway complement dysregulation with abnormal glomerular C3 deposits and glomerular damage is a key mechanism of pathology in C3 glomerulopathy (C3G). No disease-specific treatments are currently available for C3G. Therapeutics inhibiting complement are emerging as a potential strategy for the treatment of C3G. In this study, we investigated the effects of N-acetylgalactosamine (GalNAc)-conjugated small interfering RNA (siRNA) targeting the C3 component of complement that inhibits liver C3 expression in the C3G model of mice with heterozygous deficiency of factor H (Cfh +/- mice). We showed a duration of action for GalNAc-conjugated C3 siRNA in reducing the liver C3 gene expression in Cfh +/- mice that were dosed s.c. once a month for up to 7 mo. C3 siRNA limited fluid-phase alternative pathway activation, reducing circulating C3 fragmentation and activation of factor B. Treatment with GalNAc-conjugated C3 siRNA reduced glomerular C3d deposits in Cfh +/- mice to levels similar to those of wild-type mice. Ultrastructural analysis further revealed the efficacy of the C3 siRNA in slowing the formation of mesangial and subendothelial electron-dense deposits. The present data indicate that RNA interference-mediated C3 silencing in the liver may be a relevant therapeutic strategy for treating patients with C3G associated with the haploinsufficiency of complement factor H.

Rickets guidance: part II—management

Here, we discuss the management of different forms of rickets, including new therapeutic approaches based on recent guidelines. Management includes close monitoring of growth, the degree of leg bowing, bone pain, serum phosphate, calcium, alkaline phosphatase as a surrogate marker of osteoblast activity and thus degree of rickets, parathyroid hormone, 25-hydroxyvitamin D3, and calciuria. An adequate calcium intake and normal 25-hydroxyvitamin D3 levels should be assured in all patients. Children with calcipenic rickets require the supplementation or pharmacological treatment with native or active vitamin D depending on the underlying pathophysiology. Treatment of phosphopenic rickets depends on the underlying pathophysiology. Fibroblast-growth factor 23 (FGF23)-associated hypophosphatemic rickets was historically treated with frequent doses of oral phosphate salts in combination with active vitamin D, whereas tumor-induced osteomalacia (TIO) should primarily undergo tumor resection, if possible. Burosumab, a fully humanized FGF23-antibody, was recently approved for treatment of X-linked hypophosphatemia (XLH) and TIO and shown to be superior for treatment of XLH compared to conventional treatment. Forms of hypophosphatemic rickets independent of FGF23 due to genetic defects of renal tubular phosphate reabsorption are treated with oral phosphate only, since they are associated with excessive 1,25-dihydroxyvitamin D production. Finally, forms of hypophosphatemic rickets caused by Fanconi syndrome, such as nephropathic cystinosis and Dent disease require disease-specific treatment in addition to phosphate supplements and active vitamin D. Adjustment of medication should be done with consideration of treatment-associated side effects, including diarrhea, gastrointestinal discomfort, hypercalciuria, secondary hyperparathyroidism, and development of nephrocalcinosis or nephrolithiasis.

MRNA-COVID19 Vaccination Can Be Considered Safe and Tolerable for Frail Patients.

BackgroundFrail patients are considered at relevant risk of complications due to coronavirus disease 2019 (COVID-19) infection and, for this reason, are prioritized candidates for vaccination. As these patients were originally not included in the registration trials, fear related to vaccine adverse events and disease worsening was one of the reasons for vaccine hesitancy. Herein, we report the safety profile of the prospective, multicenter, national VAX4FRAIL study (NCT04848493) to evaluate vaccines in a large trans-disease cohort of patients with solid or hematological malignancies and neurological and rheumatological diseases.MethodsBetween March 3 and September 2, 2021, 566 patients were evaluable for safety endpoint: 105 received the mRNA-1273 vaccine and 461 the BNT162b2 vaccine. Frail patients were defined per protocol as patients under treatment with hematological malignancies (n = 131), solid tumors (n = 191), immune-rheumatological diseases (n = 86), and neurological diseases (n = 158), including multiple sclerosis and generalized myasthenia. The impact of the vaccination on the health status of patients was assessed through a questionnaire focused on the first week after each vaccine dose.ResultsThe most frequently reported moderate–severe adverse events were pain at the injection site (60.3% after the first dose, 55.4% after the second), fatigue (30.1%–41.7%), bone pain (27.4%–27.2%), and headache (11.8%–18.9%). Risk factors associated with the occurrence of severe symptoms after vaccine administration were identified through a multivariate logistic regression analysis: age was associated with severe fever presentation (younger patients vs. middle-aged vs. older ones), female individuals presented a higher probability of severe pain at the injection site, fatigue, headache, and bone pain; and the mRNA-1237 vaccine was associated with a higher probability of severe pain at the injection site and fever. After the first dose, patients presenting a severe symptom were at a relevant risk of recurrence of the same severe symptom after the second one. Overall, 11 patients (1.9%) after the first dose and 7 (1.2%) after the second one required postponement or suspension of the disease-specific treatment. Finally, two fatal events occurred among our 566 patients. These two events were considered unrelated to the vaccine.ConclusionsOur study reports that mRNA-COVID-19 vaccination is safe also in frail patients; as expected, side effects were manageable and had a minimum impact on patient care path.

Effects of Natural Products on Neuromuscular Junction.

Neuromuscular junction (NMJ) disorders result from damage, malfunction or absence of one or more key proteins involved in neuromuscular transmission, comprising a wide range of disorders. The most common pathology is antibody-mediated or downregulation of ion channels or receptors, resulting in Lambert-Eaton myasthenic syndrome, myasthenia gravis, and acquired neuromyotonia (Isaac's syndrome), and rarely congenital myasthenic syndromes caused by mutations in NMJ proteins. A wide range of symptomatic treatments, immunomodulating therapies, or immunosuppressive drugs have been used to treat NMJ diseases. Future research must be directed at a better understanding of the pathogenesis of these diseases, and developing novel disease-specific treatments. Numerous secondary metabolites, especially alkaloids isolated from plants, have been used to treat NMJ diseases in traditional and clinical practices. An ethnopharmacological approach has provided leads for identifying new treatments for NMJ diseases. In this review, we performed a literature survey in Pubmed, Science Direct, and Google Scholar to gather information on drug discovery from plant sources for NMJ disease treatments. To date, most research has focused on the effects of herbal remedies on cholinesterase inhibitory and antioxidant activities. This review provides leads for identifying potential new drugs from plant sources for the treatment of NMJ diseases.

Parents' Perspectives on Diagnosis and Decision-Making regarding Ventilator Support in Children with SMA Type 1.

Spinal muscular atrophy (SMA) is a rare neuromuscular disorder with a broad clinical spectrum. The most severe phenotype-SMA type 1-is characterized by marked muscle weakness also affecting bulbar and respiratory function. Life expectancy of children with SMA type 1 is expected to be less than 2 years without ventilator support or disease-specific drug treatment. The aim of this study was to evaluate parents' perspectives on the process of decision-making regarding ventilator support in children with SMA type 1. Fourteen semi-structured interviews were performed with parents of children with SMA type 1 that decided either for or against ventilator support for their child. All children were diagnosed prior to the approval of SMA-specific drug treatment. Interviews were recorded and transcribed verbatim. Data analysis was performed using a qualitative content analysis approach according to Mayring. Parents experienced that they were not adequately informed about the disease and treatment options in first informed consent discussions. Especially regarding ventilator support, parents perceived that they were not offered ventilator support as an actual option for treatment. Regarding the decision of whether or not to offer ventilator support, parents reported that their attitude toward ventilator support and contact with other affected families or patient advocacy groups were more likely to influence the decision than the content of informed consent discussions with physicians. Our results underline the importance of an interdisciplinary team not only to provide parents with relevant information but also to consider the criteria of a patient-centered medicine.

POS-371 Apelin is Altered Early in Autosomal Dominant Polycystic Kidney Disease

Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of kidney failure. Blocking the vasopressin V2 receptor in the distal segments of the kidney with tolvaptan constitutes the only disease specific treatment currently available.

Isolated anemia in patients with large granular lymphocytic leukemia (LGLL)

Patients with large granular lymphocytic leukemia (LGLL) frequently present with neutropenia. When present, anemia is usually accompanied by neutropenia and/or thrombocytopenia and isolated anemia is uncommon. We evaluated a cohort of 244 LGLL patients spanning 15 years and herein report the clinicopathologic features of 34 (14%) with isolated anemia. The patients with isolated anemia showed a significantly male predominance (p = 0.001), a lower level of hemoglobulin (p < 0.0001) and higher MCV (p = 0.017) and were less likely to have rheumatoid arthritis (p = 0.023) compared to the remaining 210 patients. Of the 34 LGLL patients with isolated anemia, 13 (38%) presented with pure red cell aplasia (PRCA), markedly decreased reticulocyte count and erythroid precursors, and more transfusion-dependence when compared to non-PRCA patients. There was no other significant clinicopathologic difference between PRCA and non-PRCA patients. 32 patients were followed for a median duration of 51 months (6–199). 24 patients were treated (11/11 PRCA and 13/21 non-PRCA patients, p < 0.02). The overall response rate to first-line therapy was 83% [8/11 (72.7%) for PRCA, 12/13 (92.3%) for non-PRCA], including 14 showing complete response and 6 showing partial response with a median response duration of 48 months (12–129). Half of non-PRCA patients who were observed experienced progressive anemia. During follow-up, no patients developed neutropenia; however, 5/27 (18.5%) patients developed thrombocytopenia. No significant difference in overall survival was noted between PRCA and non-PRCA patients. In summary, this study demonstrates the unique features of LGLL with isolated anemia and underscores the importance of recognizing LGLL as a potential cause of isolated anemia, which may benefit from disease-specific treatment. LGLL patients with PRCA were more likely to require treatment but demonstrated similar clinicopathologic features, therapeutic responses, and overall survival compared to isolated anemia without PRCA, suggesting PRCA and non-PRCA of T-LGLL belong to a common disease spectrum.

Convalescent plasma improves overall survival in patients with B-cell lymphoid malignancy and COVID-19: a longitudinal cohort and propensity score analysis.

Patients with hematological malignancy and COVID-19 display a high mortality rate. In such patients, immunosuppression due to underlying disease and previous specific treatments impair humoral response, limiting viral clearance. Thus, COVID-19 convalescent plasma (CCP) therapy appears as a promising approach through the transfer of neutralizing antibodies specific to SARS-CoV-2. We report the effect of CCP in a cohort of 112 patients with hematological malignancy and COVID-19 and a propensity score analysis on subgroups of patients with B-cell lymphoid disease treated (n = 81) or not (n = 120) with CCP between May 1, 2020 and April 1, 2021. The overall survival of the whole cohort was 65% (95% CI = 56–74.9) and 77.5% (95% CI = 68.5–87.7) for patients with B-cell neoplasm. Prior anti-CD20 monoclonal antibody therapy was associated with better overall survival, whereas age, high blood pressure, and COVID-19 severity were associated with a poor outcome. After an inverse probability of treatment weighting approach, we observed in anti-CD20–exposed patients with B-cell lymphoid disease a decreased mortality of 63% (95% CI = 31–80) in the CCP-treated group compared to the CCP-untreated subgroup, confirmed in the other sensitivity analyses. Convalescent plasma may be beneficial in COVID-19 patients with B-cell neoplasm who are unable to mount a humoral immune response.

Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study.

To investigate the short-term efficacy and safety of high-dose pyridoxine and pyridoxal 5-phosphate (P5P) in the treatment of inherited glycosylphosphatidylinositol (GPI) deficiency-associated epilepsy. Participants with genetically confirmed GPI deficiency were treated with oral pyridoxine or P5P as compassionate use in an agreed-upon clinical regimen. Pyridoxine (20-30 mg/kg/day) was used for 3 months. Baseline evaluation included 4 weeks of prospective seizure data and one video electroencephalogram (EEG). Seizure frequency was captured daily. The EEG was repeated after reaching maximum dosage of pyridoxine. Pyridoxine was switched to P5P (20-30 mg/kg/day) if seizure burden was unchanged after 3 months' treatment. Another EEG was done after 3 months of P5P treatment. Primary outcome measures were reduction of seizure frequency and EEG improvements. Seven participants (one female, six males; age range 5-23 year; mean age 11 years 10 months, SD 5 year 2 months) were included. The genetic causes of inherited GPI deficiency were phosphatidylinositol N-acetylglucosaminyltransferase subunit A/T/V deficiency. All had drug-resistant epilepsy and neurodevelopmental impairment. We observed more than 50% seizure frequency reduction in 2 out of 7 and less than 50% reduction in another 3 out of 7 participants. No participants reached seizure freedom. No remarkable changes in electrophysiological findings were observed in 6 out of 7 participants treated with pyridoxine or P5P when comparing the baseline and follow-up EEGs. We observed no long-lasting electrophysiological improvements during treatment but pyridoxine may reduce seizure frequency or burden in inherited GPI deficiency. Inherited glycosylphosphatidylinositol (GPI) deficiency often causes early-onset and drug-resistant epilepsy. Vitamin B6 is a potential disease-specific treatment; however, efficacy and safety are ill-defined. Pyridoxine may reduce seizure frequency or burden in inherited GPI deficiency. Pyridoxine and P5P could prove to be a useful treatment in some individuals with inherited GPI deficiency and epilepsy.

Plasma cell leukemia: Retrospective review of cases at Monter Cancer Center/Northwell Health Cancer Institute, 2014-2019

Plasma cell leukemia (PCL) is an aggressive malignancy and an area of unmet need. The diagnostic criteria for PCL are in flux and the molecular basis of disease is complex. Due to its fulminant course and lack of prospective clinical trials in PCL, the optimal therapeutic approach remains controversial. “Novel therapy” in this manuscript refers to immunomodulatory drugs (IMiDs) and proteasome inhibitors (PIs). “Newer agents” refers to currently approved and investigational targeted therapies such as monoclonal antibodies (mAbs), example daratumumab (Dara), bi- or tri-specific antibodies, and antibody-drug conjugate therapies (ADCs). Novel therapy and use of newer agents borrowed from treatment advances in multiple myeloma (MM), is impacting PCL outcomes. Therefore, it is crucial to analyze effects of newer agents on PCL survival with respect to disease characteristics and specific treatment regimens used. In this retrospective study, we report outcomes of eight cases of PCL, primary and secondary, the prognostic factors in each case and the impact of different treatment regimens on overall survival (OS).

Distinct Perspective of Uterine Prolapse with special reference to its Etiological Factor and Treatment

Uterine prolapse (UP), also known as pelvic organ prolapse (POP) and genital prolapse, describes the descent of the uterus from its normal anatomical confines to positions within or outside the vaginal introitus. Etiological factors for prolapse vary from study to study but those reported consistently are increasing age, parity and obesity. Other possible causes include smoking, chronic increase in intra-abdominal pressure, estrogen deficiency; connective tissue disorders, low socioeconomic status, ethnicity and family history.This article is a case study which represents, raised internal abdominal pressure due to YOGactivities like Kapalbhatias a causative factor of uterine prolapse and accordingly the treatment plan. At present people are practicing Yog, Pranayam&amp; Asana. But it is important to remember that the activities appropriate for some women may not be suited to others depending on individual risk factors for pelvic floor injury. In Ayurved, treatment plan changes from person to person depending upon NIDANPANCHAK (Diagnostics) that is 1. Etiological factors 2. Premonitory Symptoms 3. Signs &amp; Symptoms 4. Pacifying &amp; Aggravating factors 5. Individualized pathogenesis of disease. Thus, it is not sufficient to treat such cases with disease specific treatment, but investigating etiological factor and planning of treatment accordingly is worthwhile.

Treatment of Alopecia in Children.

Alopecia or hair loss in children is an important and often challenging problem to diagnose and treat. Early diagnosis and treatment is the key because hair loss in children has a significant physical as well as psychological impact on their development. Alopecia in children are mainly non-scarring, but cicatricial alopecia can also be seen. The diagnosis can usually be made by direct examination of the scalp. Potassium hydroxide (KOH) examination of plucked hair and scalp scrapings, woods lamp examination and trichoscopy are useful diagnostic aids. When a cicatricial alopecia is suspected, scalp biopsy is recommended. Disease specific treatment should be initiated early and adequate counselling provided to both the patient and their parents. This review focuses on the treatment options available for various types of alopecia in children and their safety and efficacy data, analyzing the available literature evidences. J Drugs Dermatol. 2022;21(1):49-53. doi:10.36849/JDD.6096.

Concept of Aamin Ayurvedaand its Importance in Treating Diseases

Aamis the Apakva Ahara Rasaformed due to the action of Mandagnion ingested food. It is the root cause of many diseases. Due to its distinct qualities it can obstruct the Srotas. Hence the Doshas start accumulating at the site of obstruction and cause diseases. Depending upon its association, diseases can be divided into two groups -Samaand Nirama. In Ayurvedavarious Acharyas have described about qualities, features and treatment modalities of Aam. It is very important to distinguish between Samaand Nirama Avasthaof the body before treating any disease. Because, in the presence of Aamand its causative factor Mandagni, it is not possible to digest Dosha, Aharaand even Ousadh. This leads to formation of more Aamand further increases the severity of the disease. Therefore in Samadiseases, Aampacifying treatment, such as Apatarpan, has to be applied first and only after attaining Nirama Avastha, other disease specific treatment should be applied.

Burden of disease of X-linked hypophosphatemia in Japanese and Korean patients: a cross-sectional survey.

The burden of disease of X-linked hypophosphatemia (XLH) in East Asia is poorly understood. This was a cross-sectional study using an online questionnaire to evaluate health-related quality of life (HRQOL) and disease complications in Japanese and Korean patients with XLH. Adults with XLH and the caregivers of children <18 years of age with XLH in Japan and Korea were surveyed. Respondents disclosed demographic data, family history, diagnostic history, medical history, surgical history, disease-specific clinical symptoms, treatment, medications, and use of ancillary equipment. Patient-reported outcomes (PROs; the Western Ontario and McMaster Universities Osteoarthritis Index, the brief pain inventory, and the 36-item short form health survey version 2) were used to assess pain, disability, and HRQOL in adults. Of those surveyed, all 14 children (100%) and 30/32 adults (93.8%) were receiving treatment for XLH. However, despite oral phosphate and active vitamin D use, short stature, gait abnormalities, dental conditions, and decreased physical function were reported. Stapling of the growth plates was reported in 14.3% of children but no adults. Adult patients reported high rates of bone pain (59.4%) and joint pain (65.6%). Caregivers of children with XLH also reported the occurrence of bone pain (35.7%) and joint pain (35.7%). Many adult patients had a history of impaired renal function (9.5%), nephrocalcinosis (15.6%), hyperparathyroidism (15.6%), and parathyroidectomy (6.3%), all of which are associated with conventional XLH treatments. These data show that patients (both pediatric and adult) continue to have symptoms such as pain, disability, and various complications despite receiving conventional therapies.

Psycho-social distress and disease specific treatment affecting quality of life in breast cancer patients: A brief report

Health-related quality of life (QOL) in breast cancer patients is very pertinent to assess due to advances in treatment leading to prolonged survival. Nevertheless, psycho-social distress and various treatment modalities used in breast cancer can have both acute and delayed complications which can significantly affect QOL of the patient. The diagnosis of the disease, impairment of body image, alopecia and alteration of femininity are some of the major factors causing psychological distress. Among the treatment related factors, fatigue, insomnia, lymphedema, premature menopause and pain are the prominent factors influencing QOL. Measures should be undertaken to timely diagnose and treat these symptoms. Physical activity such as yoga, tai-chi, aerobics, meditation can enhance QOl and reduce these symptoms. Also psychosocial education is an upcoming treatment which helps to improve overall QOL.