A Unique Case of Harlequin Ichthyosis in the Tertiary Health Care System in a Rural Area.

Harlequin ichthyosis (HI) is a severe and rare genetic anomaly that affects skin development and leads to the formation of thick, diamond-shaped plates of keratinized skin. The adenosine triphosphate binding cassette A 12 (ABCA12) gene, which is essential for the transportation of lipids required for the skin's barrier function, has mutations that result in this condition. The affected individuals exhibit distinct clinical features, including thickened skin, deep cracks, and fissures, which can result in significant physical and functional impairments. HI is usually apparent at birth, with affected infants presenting with tight and rigid skin that restricts movement and normal growth. The condition is associated with various complications, including difficulty breathing, feeding difficulties, and increased susceptibility to infections. Due to the impaired skin barrier, affected individuals are also prone to dehydration and temperature dysregulation. In this case report, we present a unique case of ichthyosis in a nine-month-old child. Despite advances in medical care, HI remains a challenging condition with a high mortality rate, particularly in the neonatal period. However, with early detection, appropriate interventions, and an improved understanding of the underlying molecular mechanisms, there is hope for enhanced management and improved quality of life for individuals living with HI.

Efficacy and Safety of Teriparatide in Improving Fracture Healing and Callus Formation: A Systematic Review.

Fracture nonunion remains a great challenge for orthopedic surgeons. Some bone fractures don't heal promptly, resulting in delayed unions and nonunions, and there is a need for an additional surgical procedure. Previous research has shown that teriparatide, a type of synthetic parathyroid hormone, can promote the formation of callus and lead to healing in individuals with delayed or non-healing bone fractures. Limited systematic reviews exist that examine the use of teriparatide in cases of delayed healing or non-healing bone fractures, which have their limitations. In this review, we overcome those limitations by including prospective studies, retrospective studies, case reports, and case series together. A systematic search of the literature was conducted in both PubMed and Google Scholar up to September of the year 2022. The studies included in our research included adult patients (over the age of 16) diagnosed with delayed union or nonunion of any bone in the body (flat bone, long bone, short bone, or irregular bone). The studies were limited to those written in English. The outcomes that were tracked and recorded include the healing of the fracture and any negative side effects or adverse events. The initial search yielded 504 abstracts and titles. After reviewing these, 32 articles were selected for further analysis, which included 19 case reports, five case series, two retrospective studies, and six prospective studies. Studies included daily (20 micrograms) or weekly (56.5 micrograms) subcutaneous administration of teriparatide. The duration of follow-up for these studies varied from three to 24 months. Based on the available research, it appears that administering teriparatide subcutaneously is a safe treatment option for delayed healing and non-healing bone fractures, with very few to no reported negative side effects. Using teriparatide for induction of callus formation and treating delayed and nonunions is highly safe and effective.

A Systematic Review of Cystic Fibrosis in Children: Can Non-Medical Therapy Options Lead to a Better Mental Health Outcome?

Cystic fibrosis (CF) is a chronic disorder that begins at an early age, so it is crucial to be aware of the physical and emotional burden placed on individuals suffering from it and their families. It significantly impacts an individual's life; therefore, it is essential to acknowledge the effects of the disease on physical and mental health. Our systematic review aims to highlight the areas of life affected by cystic fibrosis and evaluate various non-medical treatment options that may support the mental health of CF patients. We selected PubMed, Google Scholar, and MEDLINE (Medical Literature Analysis and Retrieval System Online) as our databases. We initially found 146,095 articles and narrowed the number of articles down using filters, exclusion and inclusion criteria, and various combinations of Medical Subheadings (MeSH) and key terms. We decided to use a final count of nine articles for our systematic review. The studies we included highlighted the negative impact of cystic fibrosis on mental health, like depression and anxiety, as well as on sleep, physical health, and overall quality of life. Several non-medical interventions, such as logotherapy, psychological interventions, complementary and alternative medicine, and many more, have been shown to enhance the mental health of many participants. Studies suggested that such therapy options may greatly benefit individuals with cystic fibrosis and their current treatment plan. This review indicates that non-medical therapy options can enhance the mental health of individuals suffering from cystic fibrosis and that it is crucial to bring more attention to preventing and treating mental health issues in cystic fibrosis patients. However, as current data is limited, more research with a larger number of participants over an extended period of time is necessary to better evaluate the efficacy of non-medical interventions on mental health.

A Systematic Review of the Efficacy of Early Initiation of Speech Therapy and Its Positive Impact on Autism Spectrum Disorder.

Autism spectrum disorder (ASD) is a condition that consists predominantly of an apparent early delay in communication and social skills. Among the multiple identified etiologies, genetics play a key role. The implementation of early interventional therapy for children with ASD is starting to show promising results. A few medical databases were used to collect multiple published types of research, which were thoroughly screened. Ultimately, a small amount was selected according to the defined eligibility criteria. The 12 articles that were reviewed involved a more significant number of boys than girls, and most clinical trials displayed the importance of starting early therapy. Astonishingly, the overwhelming effects of the COVID-19 pandemic did not affect the continuation of speech therapy in certain areas. In addition, studies emphasize knowledge scarcity, insufficient resources in certain areas, and the demand to educate the community. Conversely, no difference in the level of severity was noted with the implementation of early therapy. Early therapy, chiefly speech therapy used to treat children with ASD, demonstrated favorable outcomes. Communities require awareness about the condition on a broader scale to educate caregivers on early alarming symptoms. All in all, additional exploration needs to be done.

Drug-Eluting Bead, Irinotecan (DEBIRI) Therapy for Refractory Colorectal Liver Metastasis: A Systematic Review.

Colorectal cancer and related mortality present a profound challenge in its management, even in this modern age. Even today, colorectal cancer-related deaths rank third in the world. Despite having multiple lines of chemotherapy, combined with radiotherapy and chemoembolization techniques, after or before surgical resection, the five-year survival rate is approximately 20%. Drug-eluting bead, irinotecan (DEBIRI) is a new technique that involves embolization of the feeding vessels to the tumour and delivering irinotecan for its chemotherapeutic effects. A significant amount of literature compares DEBIRI as an adjunct to various lines of chemotherapy. However, so far, not much data are available on DEBIRI as a singular treatment for those patients who have had multiple chemotherapies and still progressing and are not fit for liver resection. In this systematic review, we aim to highlight and bring together the results of those studies that focused on this specific patient group. A systematic search of the literature involving three large databases (published between January 2017 and July 2022), excluding languages other than English, was conducted to identify articles documenting patients who had disease progression despite chemotherapy and were not fit for surgical resection. The level of evidence and the quality check were assessed by two independent reviewers, and consensus with the senior author resolved disagreements. Out of seven studies that met the final criteria, we found a pooled cohort of 302 patients. The mean age of the patients was 61.2 years, ranging from 40.7 to 84 years. The most commonly used DEBIRI beads were M1 (70-150 um) and M2 (100-300 um), but two studies reported the use of 40 um as well. The total number of DEBIRI treatments performed in our pooled cohort was 904. The majority of the studies reported only G1/G2 toxicities among the patients, with maximal toxicity of G4 in a few selected patients. The median overall survival in our pooled cohort was 19.52 months. The median progression-free survival in our data was 5.76 months. Our systematic review concludes that DEBIRI is undoubtedly a useful treatment modality with an acceptable toxicity profile. This treatment offers a good overall survival benefit for refractory colorectal liver metastasis.

Rate-related left bundle branch block and cardiac memory in a patient with bradycardia: Case report and literature review.

Rate-related left bundle branch block (LBBB) is a well-studied phenomenon. Cardiac memory is another physiologic phenomenon in which T-wave abnormalities occur in the absence of ischemia. The association between these 2 phenomena has been described in several case reports. A literature review was performed through Ovid and PubMed, where at total of 93 cases of rate-related LBBB were identified. Cases were reviewed, and data were collected on rates of appearance and disappearance as well as the presence or absence of cardiac memory. There is some overlap in the rate at which LBBB appears. Cardiac memory is associated with rate-related LBBB in several cases, but its true prevalence is unknown. Cardiac memory is a phenomenon that is well described in the literature but is often underrecognized in clinical practice. As a consequence of overlooking this phenomenon and not including cardiac memory in the differential when T-wave abnormalities are observed, patients may be subjected to unnecessary invasive diagnostic testing.

Mitral valve ring dehiscence with an aorta-left atrial fistula.

In an era with the increasing use of various imaging modalities including echocardiography, ventriculography and cardiac magnetic resonance (CMR) imaging, one must be aware of the limitations of each discipline. We report a case of an individual who presented with both a partial dehiscence of a mitral valve annuloplasty ring and an aorta-left atrium fistula following surgical management of infective endocarditis that was correctly identified using transesophageal echocardiographic imaging.

Delayed enhancement cardiac MR imaging in noncompaction of left ventricular myocardium.

A 49-year-old female with a history of paroxysmal atrial fibrillation, presented with worsening dyspnea on minimal exertion. During the follow-up period, transthoracic echocardiography and cardiac magnetic resonance imaging (CMR) were consistent with the diagnosis of noncompaction of the left ventricle. Delayed-enhancement CMR demonstrated hyperenhancement of the prominent trabeculations located at the mid and apical portions of the left ventricle, suggesting areas of fibrosis. Although previous cases of left ventricular noncompaction diagnosed with CMR have been described in the literature, this is the first case to describe the utility of delayed-enhancement imaging in the pathohistological confirmation of myocardial fibrosis and scarring in the hypertrabeculated myocardium.

Quantitative parameters of image quality in 64-slice computed tomography angiography of the coronary arteries.

We explored quantitative parameters of image quality in consecutive patients undergoing 64-slice multi-detector computed tomography (MDCT) coronary angiography for clinical reasons. Forty-two patients (36 men, mean age 61 +/- 11 years, mean heart rate 63 +/- 10 bpm) underwent contrast-enhanced MDCT coronary angiography with a 64-slice scanner (Siemens Sensation 64, 64 mm x 0.6 mm collimation, 330 ms tube rotation, 850 mAs, 120 kV). Two independent observers measured the overall visualized vessel length and the length of the coronary arteries visualized without motion artifacts in curved multiplanar reformatted images. Contrast-to-noise ratio was measured in the proximal and distal segments of the coronary arteries. The mean length of visualized coronary arteries was: left main 12 +/- 6 mm, left anterior descending 149 +/- 25 mm, left circumflex 89 +/- 30 mm, and right coronary artery 161 +/- 38 mm. On average, 97 +/- 5% of the total visualized vessel length was depicted without motion artifacts (left main 100 +/- 0%, left anterior descending 97 +/- 6%, left circumflex 98 +/- 5%, and right coronary artery 95 +/- 6%). In 27 patients with a heart rate < or = 65 bpm, 98 +/- 4% of the overall visualized vessel length was imaged without motion artifacts, whereas 96+/-6% of the overall visualized vessel length was imaged without motion artifacts in 15 patients with a heart rate > 65 bpm (p < 0.001). The mean contrast-to-noise ratio in all measured coronary arteries was 14.6 +/- 4.7 (proximal coronary segments: range 15.1 +/- 4.4 to 16.1 +/- 5.0, distal coronary segments: range 11.4 +/- 4.2 to 15.9 +/- 4.9). In conclusion, 64-slice MDCT permits reliable visualization of the coronary arteries with minimal motion artifacts and high CNR in consecutive patients referred for non-invasive MDCT coronary angiography. Low heart rate is an important prerequisite for excellent image quality.