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Introduction: Kohlschütter-Tönz (KTS) is a rare autosomal recessive, genetically heterogeneous disorder characterized by a triad of early-onset seizures, global developmental delay or regression, and amelogenesis imperfecta of both temporary and permanent teeth. To date, 66 cases have been reported in the literature, of which 44 with genetic confirmation., Case Report: Here we report the observation of sibling pairs in a family from a small village in India who presented with nephrocalcinosis, distal renal tubular acidosis, and skeletal abnormality. Nephrocalcinosis has only been reported once before in an individual affected with KTS., Results: Trio exome sequencing revealed a novel, homozygous, likely pathogenic variant, c.646-2_649del, in exon 9 of the ROGDI gene (NM_024589.3) in the first child. Sanger sequencing confirmed homozygosity in both children. Both parents are heterozygous carriers of the same variant., Conclusion: Further research needs to be done to identify the exact mechanism by which ROGDI-encoded protein deficiency leads to nephrocalcinosis and distal renal tubular acidosis., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)

Purpose of Review: The human gut harbors a diverse community of microorganisms known as the gut microbiota. Extensive research in recent years has shed light on the profound influence of the gut microbiome on human health and disease. This review aims to explore the role of the gut microbiome in various clinical conditions and highlight the emerging therapeutic potential of targeting the gut microbiota for disease management., Recent Findings: Knowledge of the influence of gut microbiota on human physiology led to the development of various therapeutic possibilities such as fecal microbiota transplant (FMT), phage therapy, prebiotics, and probiotics. Recently, the U.S. FDA approved two FMT products for the treatment of recurrent Clostridioides difficile infection with ongoing research for the treatment of various disease conditions., Summary: Advancement in the knowledge of the association between gut microbiota and various disease processes has paved the way for novel therapeutics., (Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.)

Background: Lack of adherence is a ubiquitous problem which can be a hindrance in the treatment of chronic conditions like systemic lupus erythematosus (SLE)., Objectives: A random sample of 63 SLE patients attending rheumatology clinics associated with University Medical Centers were surveyed to measure level of adherence to their SLE medications and to identify the risk factors that have been associated previously with nonadherence to these medications., Methods: Information on traditional SLE outcomes was obtained by face-to-face interviews and medical record review. Various patient proposed strategies were identified to improve adherence to these medications., Results: When considering adherence estimates of > or =80% as representing sufficient adherence for achieving a therapeutic response, adherence to medications was only modestly adherent, likely limiting the effectiveness of the prescribed medication regimens. Based on pharmacy refill information 61% of the patients were sufficiently adherent to prednisone, 49% to hydroxychloroquine, and 57% to other immunosuppressant medications. Significant risk factors of insufficient adherence included being single, low educational level, presence of other comorbidities, limited comprehension of physician explanations and instructions, and having to take the medication more than one daily. Based on subject reports, busy life styles were among the most important barriers to adherence whereas pillboxes were considered most helpful for helping with medication adherence., Conclusion: Although lack of sufficient adherence to medications appears to be a multifactorial problem, improved communication between the healthcare provider and the patient, and less complicated medication regimens, may be especially suitable interventions to improve adherence to medications.

The purpose of this study was to investigate acute coronary syndromes (ACS) in elderly persons of different races. A prospective study was performed in which 177 consecutive unselected patients aged > or = 70 years hospitalized for ACS had coronary angiography. The patients included 11 blacks, 140 whites, and 26 patients of other races. Obstructive coronary artery disease (CAD) was present in 8 of 11 blacks (73%), 121 of 140 whites (86%), and 25 of 26 patients of other races (96%) (P < 0.05 comparing black patients with those of other races). Left main CAD was present in 0 of 11 blacks (0%), 9 of 140 whites (6%), and in 1 of 26 patients of other races (4%) (P not significant). Left anterior descending or diagonal CAD was present in 4 of 11 blacks (36%), 96 of 140 whites (67%), and 18 of 26 patients of other races (69%) (P < 0.05 comparing blacks with whites). Left circumflex or obtuse marginal disease was present in 5 of 11 blacks (45%), 72 of 140 whites (51%), and in 17 of 26 patients of other races (65%) (P not significant). Right CAD was present in 5 of 11 blacks (45%), 81 of 140 whites (58%), and 18 of 26 patients of other races (69%) (P not significant). Coronary revascularization was performed in 7 of 11 blacks (64%), 72 of 140 whites (52%), and 17 of 26 patients of other races (66%) (P not significant).

Failed thrombolysis following acute myocardial infarction is associated with a poor prognosis. Balloon angioplasty with or without stenting is an established procedure in acute myocardial infarction and for failed thrombolysis (rescue percutaneous transluminal coronary angioplasty [PTCA]). Intracoronary stenting improves initial success rates, decreases incidence of abrupt closure, and reduces the rate of restenosis after angioplasty. The purpose of this study was to compare the effect of rescue PTCA with rescue stenting in the treatment of acute myocardial infarction after failed thrombolysis. Clinical data are from a retrospective review of 102 patients requiring rescue balloon angioplasty or stenting after failed thrombolysis for acute myocardial infarction. There was a greater incidence of recurrent angina in 11 patients (22%) in the rescue PTCA group versus 2 patients (4%) in the rescue stenting group. The in-hospital recurrent myocardial infarction rate was 14% in the rescue PTCA group versus 2% in the stented group. In the rescue PTCA cohort, 11 patients (22%) required in-hospital repeat revascularization versus 2 patients in the stented group. The in-hospital mortality rate was higher in the PTCA group (10%) versus that in the stent group (2%). There was no significant difference in the incidence of postdischarge deaths. Rescue stenting is superior to rescue angioplasty. The procedure is associated with lower in-hospital angina and recurrent myocardial infarction, and the need for fewer repeat revascularizations. Long-term patients treated with stents required fewer revascularization procedures. Overall, rescue stenting was associated with a significantly lower mortality.

Balloon angioplasty in acute myocardial infarction is an established procedure. The procedure is limited by the potential for early abrupt reocclusion (18-20%) and other complications. Coronary stenting improves the initial success rate, decreases the incidence of abrupt closure, and is associated with a reduced rate of restenosis. For these reasons, coronary stenting is increasingly utilized to treat acute myocardial infarction. The purpose of this study was to compare the effect of coronary stenting with percutaneous transluminal coronary angioplasty (PTCA) in the management of acute myocardial infarction. Clinical data from a retrospective review of 228 consecutive patients admitted with acute myocardial infarction who underwent primary or rescue coronary intervention were used. There was a significantly greater incidence of in-hospital recurrent myocardial infarction in the PTCA group (10%) versus the stented group (1%). In the PTCA cohort, 10 patients required in-hospital repeat revascularization by PTCA compared with one patient in the stented group. The in-hospital death rate was significantly higher in the PTCA group (8%) compared with the stented group (1%). There was no significant difference in the incidence of postdischarge death or repeated revascularization. The results suggest that patients who undergo PTCA with stent deployment have fewer episodes of in-hospital recurrent angina, myocardial infarctions, repeat angioplasties, and fewer in-hospital deaths. PTCA with stenting was associated with a low in-hospital mortality (1%). For patients who had PTCA alone and survived to be discharged, there was no significant difference in overall mortality or the need for revascularization over the 2-year follow-up period.

Long-term clinical outcome after use of stents in primary and rescue coronary angioplasty for treatment of acute myocardial infarction has not been described in detail. This study was conducted to evaluate long-term (more than one year) outcome in patients treated for acute myocardial infarction with stents. Between January 1, 1997 and September 1997, 101 consecutive patients had coronary artery stents implanted either for primary treatment of myocardial infarction or after failed thrombolytic therapy. Medical records of these patients were reviewed and telephone follow-up was performed using a standard questionnaire. Mean duration of follow-up was 17.8 +/- 1.7 months. During initial hospitalization only one patient had emergent percutaneous transluminal coronary angioplasty due to stent thrombosis (1%); two patients underwent emergent coronary artery bypass surgery (2%) and two patients died (2%). During the follow-up period, ten patients (10%) had recurrent angina, eight patients were treated medically (8%), two required repeat angioplasty (2%), two patients died (2%), and three patients (3%) were lost to follow-up. Stenting of the culprit vessel during acute myocardial infarction appears to be a safe and effective treatment associated with favorable in-hospital and long-term outcomes.

The production of average 'normative' three-dimensional (3D) computed tomography surface images of the bony skull has only recently been explored. The authors wish to determine the effect of using sex- and ethnicity-specific adult average 3D skull images for comparisons with patient images at various stages of craniofacial surgical management (i.e., diagnosis, treatment planning, prosthetic design, image-guided operative procedures, and outcomes assessment). Craniofacial surgical reconstruction for abnormal patterns of development, cancer resection, or trauma are most likely to benefit from these comparisons. To morphometrically test the significance of separating normative 3D skull data by sex and ethnicity, the authors collected 52 3D, anatomical landmarks from 3D computed tomography scans of dry skulls of 20 Americans of European ethnicity and 20 Americans of primarily African (i.e., primarily African and some European) ethnicity. A Procrustes-based morphometric analysis of shape detects 1.2 times as much interethnic variance as intersex variance. The African American sample presents 4.2% more dolichocephaly, wider orbits, flatter nasal area, larger gnathic anatomy, and more procumbent dentition. Pooling the sexes across both groups, it is seen that men tend to have less bulbous crania, more protruding brows, noses, and masticatory muscle attachments, and relatively less protrusive palettes and anterior mandibles. Despite a small sample size (N = 40), the authors' results are statistically significant (P approximately 0.001 overall) for both of the main factors, sex and ethnicity, separately.