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Neonatal Propionic Acidemia: A Case Report in the Sri Lanka
Manori Priyadarshani,
Kapilani Withanaarachchi,
Chathurini Ariyarathna
Issue:
Volume 11, Issue 3, May 2023
Pages:
32-34
Received:
13 October 2022
Accepted:
31 October 2022
Published:
22 May 2023
Abstract: Propionic acidemia (aciduria) is a rare autosomal recessive inherited metabolic disorder that is caused by a defective form of the propionyl-coenzyme A (COA) carboxylase enzyme, which results in the accumulation of propionic acid. If the patient is having conditions with increased metabolic demand followed by catabolism, they can present as acute deterioration. Clinical features usually start shortly after birth, and rare cases are present in young adulthood. This disorder most commonly is characterized by episodic decompensation with dehydration, lethargy, nausea, and vomiting. Early identification and initial management are crucial to prevent the mortality and morbidity of patients. Our case is the first baby of consanguineous parents, presented with vomiting, Poor feeding, and severe dehydration on day four of life. In developed countries, early detection is done with newborn screening, but in Sri Lanka like third world countries it is not possible due to poor resources. The take-home message is if a newborn who is a product of consanguineous parents presented with non-specific symptoms, always think about the metabolic disorders which need urgent intervention to save the child from acute and long-term complications.
Abstract: Propionic acidemia (aciduria) is a rare autosomal recessive inherited metabolic disorder that is caused by a defective form of the propionyl-coenzyme A (COA) carboxylase enzyme, which results in the accumulation of propionic acid. If the patient is having conditions with increased metabolic demand followed by catabolism, they can present as acute d...
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Joint Hypermobility Syndrome: A Narrative Review
Jobson Lopes de Oliveira,
Igor Albuquerque Nogueira,
Camila Távora Nogueira,
Saulo Venicius Parente Lopes,
Gabriela Silva Teles,
Raul Sancho de Carvalho Rocha,
Pedro Iughetti Morais,
Ana Beatriz Cordeiro Carvalho,
Pedro Henrique de Santana Pereira,
David Johnson Pinheiro Alencar
Issue:
Volume 11, Issue 3, May 2023
Pages:
35-40
Received:
1 May 2023
Accepted:
15 May 2023
Published:
25 May 2023
Abstract: Joint hypermobility syndrome (JHS) is a complex connective tissue disorder characterized by excessive joint mobility and chronic musculoskeletal pain. The condition extends beyond the joints and can affect various systems such as the skin, gastrointestinal tract, neurological system, and cardiovascular system, necessitating a multidisciplinary approach to optimize care. Notably, the prevalence of JHS is higher in young individuals, females, and those of Asian descent. Despite being a common condition, JHS is frequently underdiagnosed, resulting in persistent pain and disability. In order to diagnose JHS, it is necessary to rule out the presence of any consistent feature that indicates the existence of other connective tissue disorders that partially overlap with it, including Marfan and Ehlers-Danlos syndromes. A thorough clinical assessment, coupled with the application of the Brighton Criteria, can aid in making an accurate diagnosis. Management of JHS poses significant challenges and typically involves symptomatic treatment, including physiotherapy, rehabilitation, and pharmacological therapy. Additionally, a multidisciplinary approach, including collaboration with different specialists, is vital. Further research is needed to improve our understanding of JHS and develop interventions based on solid evidence. However, with comprehensive management strategies, individuals with JHS can achieve better pain control and improved function, enabling them to lead more fulfilling lives.
Abstract: Joint hypermobility syndrome (JHS) is a complex connective tissue disorder characterized by excessive joint mobility and chronic musculoskeletal pain. The condition extends beyond the joints and can affect various systems such as the skin, gastrointestinal tract, neurological system, and cardiovascular system, necessitating a multidisciplinary appr...
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Application of PDSA Circulation in Carotid Artery Ultrasound Screening for High-Risk Individuals with Stroke
Dong Huiqin,
Wang Yang,
Peng Liu,
Wu Jinhua,
Li Xiujuan
Issue:
Volume 11, Issue 3, May 2023
Pages:
41-47
Received:
6 May 2023
Accepted:
23 May 2023
Published:
29 May 2023
Abstract: Objective To explore the application effect of PDSA circulation in improving the quality of carotid artery ultrasound screening in high-risk populations for stroke. Methods Refer to PDSA cycle, Randomly select 600 image and text reports (including images and text descriptions) of carotid artery ultrasonic examination from January 2021 to December 2021 in the ultrasonic medical image information system, scored according to the quality scoring standard; The goal of this time is to achieve more than 95% of the reports of Class A image and texts, propose solutions to the problems of image quality and text description in the report. Formulate countermeasures from May to June 2021. Take 50 carotid ultrasound image and text reports after implementing various improvement measures from November 2021 to December 2021 for scoring, compare the differences between 2022 and 2021 ultrasonic image text reports and clinical satisfaction scores. Analyze the changes of image text reports and clinical satisfaction scores before and after the implementation of PDSA cycle, and continuously optimize the carotid ultrasound examination process through training and learning, discussion within the department, and collection of clinical feedback. Result Before implementing the PDSA process of standardized medical quality management, the score of carotid ultrasound image and text reports was (87.46±5.82), the clinical satisfaction was (84.46±6.42), and the number of A-class image and text reports accounted for 58% (348/600); After the implementation of the standardized medical quality management PDSA process, the score of graphic reports increased to (92.74±3.55) points, and the clinical satisfaction increased to (93.14±3.86) points. The number of Class A graphic reports accounted for 82% (492/600), with statistically significant differences (all P<0.05). Conclusion PDSA circulation has effectively improved the image and text report of carotid ultrasound screening and clinical satisfaction score, which can be applied to the quality control of other single diseases in the ultrasound department, so as to improve the medical quality of the ultrasound department.
Abstract: Objective To explore the application effect of PDSA circulation in improving the quality of carotid artery ultrasound screening in high-risk populations for stroke. Methods Refer to PDSA cycle, Randomly select 600 image and text reports (including images and text descriptions) of carotid artery ultrasonic examination from January 2021 to December 2...
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Comparison of the Use of Carvedilol Versus Nebivolol in the Treatment of Acute Decompensation in the Patient with Chronic Heart Failure: Evaluation of Clinical Variables
Francisco Jose Sánchez Rivas,
Jorge Luis García,
Gabriela Guanay,
José Hipolito Donis Hernandez
Issue:
Volume 11, Issue 3, May 2023
Pages:
48-54
Received:
9 December 2022
Accepted:
17 January 2023
Published:
31 May 2023
Abstract: Previous trials demonstrated the safety of using beta-blockers in the acute decompensation of heart failure; it is unknown whether the use of nebivolol translates into an improvement in clinical parameters at 96 hours, compared to the use of carvedilol in a similar study group. Objectives: To compare the effect of 2 treatment strategies, where the difference is made by the type of beta-blocker, in patients with acutely decompensated chronic heart failure. Methods: A single-center, prospective, experimental, randomized, double-blind clinical trial was carried out, 22 patients with LVEF ≤ 40% were randomly assigned to receive carvedilol or nebivolol with daily dose increase, clinical variables were measured for 96 hours. Results: The carvedilol group reached a maximum dose of 33.3 ± 10 mg and nebivolol 9.37 ± 1.25 mg, with both treatment strategies compensation was achieved in more than 50% of the patients in both groups, without statistically significant differences for the majority of patients. clinical variables, except for greater weight loss in the carvedilol group, reaching an absolute reduction of 5.62 kg (95% CI 3.22-8.02 kg) versus nebivolol with 2.54 kg (95% CI 0. 14-4.94 kg) at 96 hours of follow-up (p 0.001) Conclusions: In patients with acutely decompensated chronic heart failure and reduced LVEF, the use of beta-blockers is safe and well tolerated, guarantees clinical improvement and rapid compensation, with doses diuretic drops. The group with carvedilol showed greater weight reduction, compared to the nebivolol group in the study population.
Abstract: Previous trials demonstrated the safety of using beta-blockers in the acute decompensation of heart failure; it is unknown whether the use of nebivolol translates into an improvement in clinical parameters at 96 hours, compared to the use of carvedilol in a similar study group. Objectives: To compare the effect of 2 treatment strategies, where the ...
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Resistant Tuberculosis in HIV-Positive Patients: A Growing Public Health Threat
Safae Elfirdaous Fari,
Maamar Mouna,
Khibri Haja,
Nisserine Jait,
Youssra Moussadik,
Thameen Jaradat,
Wafae Ammouri,
Naima Moutassim,
Hicham Harmouche,
Zoubida Mezalek Tazi,
Mohamed Adnoui
Issue:
Volume 11, Issue 3, May 2023
Pages:
55-59
Received:
17 April 2023
Accepted:
19 May 2023
Published:
31 May 2023
Abstract: Introduction: Tuberculosis (TB) is a pathology considered one of the main causes of death by single infectious agent, ranking just after HIV / AIDS. Indeed, its emergence and the difficulty of its treatment, especially in the resistant form, in patients with co-infection with other diseases immundéprimante as HIV. Observation 1: 31 years old presented with febrile headaches complicated by epileptic seizures. The MRI scan showed 3 cockeyed and multilocular lesions suggesting neuromeningeal tuberculosis. HIV serology came back positive and during the first line treatment he relapsed and the resistance test was positive. Observation 2: 45 progressive alteration of the state associated with signs of tuberculosis impregnation and a meningeal syndrome. BK in the CSF and in the sputum was positive and brain imaging allowed us to retain the diagnosis of a neuromeningeal tuberculosis. The patient was put on anti-bacillary ERIP k4 and a corticotherapy. The workup for co-infection was able to establish an HIV infection. After 3 weeks of anti-bacillary treatment, the patient had a bad evolution and the search for resistance came back positive. Observation 3: 25 years old, pulmonary tuberculosis manifested by a hemoptysis of small abundance associated with a deep alteration of the general state, 3 BK positive sputum, as well as the image of a tuberculous cavern on the thoracic CT. Bad evolution after 2 months of treatment of first worsening of symptoms neuro and systemic involvement the search for resistance came back positive. Discussion: Drug-resistant tuberculosis is a major global public health challenge. In this article, we present three cases of drug-resistant TB in HIV-coinfected patients, highlighting the emergence and increasing prevalence of multidrug-resistant TB (MDR-TB) strains worldwide. In order to control the spread of this dreaded disease, it is essential to improve treatment regimens, promote vaccination, educate affected patients, and promote adherence to treatment. conclusion: Diagnosis of drug-resistant tuberculosis should be prompt and considered if there is a delay or lack of improvement with conventional tuberculosis treatment.
Abstract: Introduction: Tuberculosis (TB) is a pathology considered one of the main causes of death by single infectious agent, ranking just after HIV / AIDS. Indeed, its emergence and the difficulty of its treatment, especially in the resistant form, in patients with co-infection with other diseases immundéprimante as HIV. Observation 1: 31 years old presen...
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Isolated Thrombocytopenia as an Initial Presentation of Systemic Lupus Erythematosus: A Case Report of a 17 Year Old Female
Rizwanullah,
Shehriyar,
Khayam,
Muhammad Saad,
Aiysha Gul
Issue:
Volume 11, Issue 3, May 2023
Pages:
60-63
Received:
14 May 2023
Accepted:
27 May 2023
Published:
6 June 2023
Abstract: Background: Childhood systemic lupus erythematosus (SLE) can manifest in various ways, with hematologic abnormalities being common. However, isolated thrombocytopenia is relatively infrequent. Case Presentation: In this case report, we describe a 17-year-old female patient who presented with complaints of generalized body aches, weakness, anorexia, and recent epistaxis, with no relevant medical history, medication use, smoking, or bleeding disorder in the family. After excluding infectious and other autoimmune causes, SLE was the final diagnosis due to high ANA and anti-dsDNA titers. Despite conventional steroid therapy, the patient's platelet count remained low, prompting the increase of prednisolone up to 2mg/kg/day. By day 7th, the platelet numbers reached to 85000/μl, indicating a favorable response. Conclusion: Our findings suggest that when isolated thrombocytopenia does not respond to conventional steroid therapy, SLE should be considered, and that a child presenting with isolated hematological abnormality should be screened for childhood-onset SLE.
Abstract: Background: Childhood systemic lupus erythematosus (SLE) can manifest in various ways, with hematologic abnormalities being common. However, isolated thrombocytopenia is relatively infrequent. Case Presentation: In this case report, we describe a 17-year-old female patient who presented with complaints of generalized body aches, weakness, anorexia,...
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