X-linked agammaglobulinemia rare disease with a rarer presentation

X-linked agammaglobulinemia (XLA) is a rare disorder, characterized by absence of mature B cells leading to severe antibodies deficiency. This translates to recurrent sinopulmonary infections in affected children. The most common age group of presentation is 6 months to 2 years. Being an X-linked recessive disorder males are affected, females are carriers. Intravenous immunoglobulins and antibiotics remains the corner stone of treatment. Here in, we report a case of 11-year-old male having recurrent episodes of fever with one episode of hospitalization 3 years back. Child was treated at healthcare facility elsewhere for recurrent fever. He presented to our institute with signs and symptoms suggestive of meningitis, investigated, had culture proven Staphylococcus aureus meningitis with a low Absolute Lymphocyte Count (ALC). On further work up found to have low serum immunoglobulins (IgG, IgM, IgA) and Flowcytometry showing absence of B cells (CD19/CD20). Child was diagnosed to have XLA. This case highlights the importance of having strong clinical suspicion of XLA, despite not having recurrent sinopulmonary infections.

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Clinical evaluation of Kasisadi Ghrita local application in Parikartika (Fissure-in-ano)

Journal of Ayurveda and Integrated Medical Sciences (JAIMS) ◽

10.21760/jaims.4.4.18 ◽

2019 ◽

Vol 4 (04) ◽

Author(s):

Mamta Gopalrao Mate ◽

D. N. Farande ◽

Vinay M. Pandey ◽

Snehal Kukade

Keyword(s):

Clinical Evaluation ◽

Severe Pain ◽

Signs And Symptoms ◽

Study Trial ◽

Local Application ◽

Trial Group ◽

Age Group ◽

Fissure In Ano

Background: Parikartika is characterized by sharp cutting pain in anal regionIn Parikartika, Teevrashoola, bleeding is seen, similarly severe pain and slimy blood discharge are seen in Fissure-in-ano. Objective: To assess the efficiency of Kasisadi Ghruta local application in the management of fissure-in-ano. Methods: The patient having classical signs and symptoms of Parikartika (fissure in ano) having Age group 20 to 60 years were recruited for the study. Trial group was treated with Kasisadi Ghruta twice a day local application for 28 days. Results: Average relief observed was 62.5% in most of symptoms. Kasisadi Ghruta is having Shothahara, Vedanasthapana and Ropana properties due to which it helps in healing of fissure in ano. Conclusion: Kasisadi Ghruta local application is having better results in fissure-in-ano.

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Clinical Trial of Efficacy and Toxicity of Disoproxil Tenofovir Fumarate and Emtricitabine for Mild to Moderate SARS-CoV-2 Infections

10.1101/2021.09.28.21264242 ◽

2021 ◽

Author(s):

Aldo A M Lima ◽

Erico A G Arruda ◽

Roberto J Pires-Neto ◽

Melissa S Medeiros ◽

J Quirino-Filho ◽

...

Keyword(s):

Clinical Trial ◽

Vitamin C ◽

Respiratory Infection ◽

Clinical Symptoms ◽

Clinical Signs ◽

Signs And Symptoms ◽

Clinical Suspicion ◽

Pharmacological Intervention ◽

Controlled Clinical Trial ◽

Double Blind

This study aimed to evaluate the efficacy and toxicity of tenofovir (TDF) and TDF combined with emtricitabine (TDF/FTC) in patients with mild to moderate COVID-19 infections. We conducted a randomized, double-blind, placebo-controlled clinical trial in patients with clinical suspicion of mild to moderate respiratory infection caused by SARS-CoV-2 who were treated at an outpatient clinic. Patients were randomly recruited to take 10 days of TDF (300 mg/day), TDF (300 mg/day) combined with FTC (200 mg/day) or placebo Vitamin C (500 mg/day). The primary parameter was the score of symptoms and predictive signs of COVID-19, assessed on the seventh day of patient follow-up. From a total of 309 patients with clinical suspicion of SARS-CoV-2, 227 met the inclusion criteria and were randomly distributed into the following groups: (a) 75 (one did not initiate treatment) in the TDF group; (b) 74 in the TDF combined with FTC group; and (c) 77 in the Vitamin C group (placebo). Of the 226 patients, 139 (62%) were positive for SARS-CoV-2. Fever (37.8oC), ageusia or dysgeusia, anosmia or dysosmia, and two or more clinical symptoms or signs were significantly associated with SARS-CoV-2 infection. There was no significant change in clinical score based on clinical symptoms and signs between treatment groups. Patients with mild to moderate infection by SARS-CoV-2 had higher concentrations of G-CSF, IL-1β, IL-6 and TNF-α compared to patients without infection. Patients with mild to moderate respiratory infection, with fever (37.8oC), loss of smell, loss of taste and two or more symptoms, have a better prediction for the diagnosis of COVID-19. Patients with SARS-CoV-2 showed higher and more persistent proinflammatory cytokines profile compared to patients not infected with SARS-CoV-2. Pharmacological intervention with TDF or TDF combined with FTC did not change the clinical signs and symptoms score in mild to moderate respiratory infection in patients with SARS-CoV-2 compared to the Vitamin C group (placebo).

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A CLINICAL EVALUATION OF MATRA BASTI AND KATI BASTI WITH DHANWANTARAM TAILA IN THE MANAGEMENT OF GRIDHRASI

International Journal of Ayurveda and Pharma Research ◽

10.47070/ijapr.v9i4.1910 ◽

2021 ◽

pp. 17-31

Author(s):

N. Haritha ◽

Rashmi. R ◽

Nighil Gigi ◽

Binu.M.B

Keyword(s):

Clinical Evaluation ◽

Combined Treatment ◽

Signs And Symptoms ◽

Age Group ◽

Group A ◽

Group B

Gridhrasi comes under 80 types of Nanatmaja Vatavyadhi. The cardinal signs and symptoms of Gridhrasi are Ruk (pain), Toda (pricking sensation), Spandana (twitching) in the Sphik, Kati, Uru, Janu, Jangha and Pada in order and Sakthikshepa Nigraha i.e., restricted lifting of the leg associated with Gourava, Aruchi. Kati Basti is widely being practiced throughout country as Bahyaupakrama which has both Snehana and Swedana effects. Matra Basti is Snehana procedure which does Vataanulomana, Vatashamana. Objectives: To evaluate the efficacy of Matrabasti and Katibasti with Dhanvantaram Taila in the management of Gridhrasi. Materials and Methods: Patients presenting with the classical features of Gridhrasi and between the age group of 16 to 50 years irrespective of sex were selected and allotted in Group A, B and C with 15 patients in each group. Group A was administered with Matra basti with Dhanwantram Taila and Group B with Kati basti with Dhanwantram Taila and Group C with both Matra basti and Kati basti with Dhanwantram Taila for 9 days. Results: In combined treatment of Kati Basti and Matra Basti in Group C there was tremendous response in relieving Ruk (73%), Toda (46%), Spandana (60%), Supti (80%), Gourava (73%), Aruchi (66%), Sparshasahyata (73.3%) SLR (60%). In Group A, patients subjected to Matra Basti was effective in relieving Ruk (26.7%), Toda (13.3%), Spandana (26.7%), Supti (66.7%), Gourava (46.7%), Aruchi (53.3%), Sparshasahyata (13.3%) SLR (6.7%). In Group B patients subjected to Kati Basti was effective in relieving Ruk (6.7%), Toda (0%), Spandana (0%), Supti (40%), Gourava (20%), Aruchi (0%), Sparshasahyata (20%) SLR (0%). Conclusion: On the basis of the results of this study, it can be clearly concluded that combined treatment of Matrabasti and Kati basti with Dhanwantaram taila provided significant relief in the signs and symptoms of Gridhrasi than individually performed Matra basti and Kati basti with Dhanwantaram taila.

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Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency

Science Immunology ◽

10.1126/sciimmunol.abf9564 ◽

2021 ◽

Vol 6 (60) ◽

pp. eabf9564

Author(s):

Thomas Magg ◽

Tsubasa Okano ◽

Lars M. Koenig ◽

Daniel F.R. Boehmer ◽

Samantha L. Schwartz ◽

...

Keyword(s):

B Cells ◽

Hematopoietic Cell Transplantation ◽

De Novo ◽

Dynamics Simulation ◽

Recurrent Fever ◽

Type I ◽

Rnase L ◽

Oligoadenylate Synthetase ◽

Gain Of Function ◽

Translational Arrest

Analysis of autoinflammatory and immunodeficiency disorders elucidates human immunity and fosters the development of targeted therapies. Oligoadenylate synthetase 1 is a type I interferon–induced, intracellular double-stranded RNA (dsRNA) sensor that generates 2′-5′-oligoadenylate to activate ribonuclease L (RNase L) as a means of antiviral defense. We identified four de novo heterozygous OAS1 gain-of-function variants in six patients with a polymorphic autoinflammatory immunodeficiency characterized by recurrent fever, dermatitis, inflammatory bowel disease, pulmonary alveolar proteinosis, and hypogammaglobulinemia. To establish causality, we applied genetic, molecular dynamics simulation, biochemical, and cellular functional analyses in heterologous, autologous, and inducible pluripotent stem cell–derived macrophages and/or monocytes and B cells. We found that upon interferon-induced expression, OAS1 variant proteins displayed dsRNA-independent activity, which resulted in RNase L–mediated RNA cleavage, transcriptomic alteration, translational arrest, and dysfunction and apoptosis of monocytes, macrophages, and B cells. RNase L inhibition with curcumin modulated and allogeneic hematopoietic cell transplantation cured the disorder. Together, these data suggest that human OAS1 is a regulator of interferon-induced hyperinflammatory monocyte, macrophage, and B cell pathophysiology.

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Study of common clinical types of cutaneous tuberculosis: two years study experience in a tertiary care centre

International Journal of Research in Dermatology ◽

10.18203/issn.2455-4529.intjresdermatol20200596 ◽

2020 ◽

Vol 6 (2) ◽

pp. 199

Author(s):

Raghu M. T. ◽

Ashwini S. ◽

Yogendra M. ◽

Virupakshappa H. E. ◽

Gangaraju Harish ◽

...

Keyword(s):

Tertiary Care ◽

Age Group ◽

Lupus Vulgaris ◽

Tertiary Care Centre ◽

Cutaneous Tuberculosis ◽

Medical College ◽

Plaque Type ◽

Study Experience ◽

The Common ◽

Work Up

Background: Cutaneous tuberculosis (TB) is frequently found worldwide, especially in tropical countries. The number of extrapulmonary TB reaches up to 14%, and 1% to 2% are cutaneous TB. Diagnosis of cutaneous tuberculosis (CTB) is complicated and requires a full work-up. Clinical manifestation of cutaneous TB is varied and causes difficulties to diagnose. Scrofuloderma and plaque type of lupus vulgaris (LV) are common forms of cutaneous TB.Methods: A retrospective study was conducted on patients attending Department of Dermatology, Venereology and Leprosy, at Basaveshwara Medical College and Hospital, Chitradurga over a period of 2 years. A total of 15 cases of cutaneous tuberculosis were diagnosed.Results: A total of 15 cases out of which included predominantly males, with age group being affected commonly are 20-40 decades, histopathology showing tuberculoid granuloma in 11 cases, and common clinical variant being lupus vulgaris seen in 66.6% of the cases and. Second common being scrufuloderma seen in 26.6% of the cases and least common is TB verrucosa cutis (TBVC) seen in 6.6% of the cases.Conclusions: The study showed that the common clinical type of cutaneous tuberculosis during the study period was lupus vulgaris, scrofuloderma and less common being TBVC.

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Androgenic alopecia in post-menopausal female: a clinical presentation

International Journal of Reproduction Contraception Obstetrics and Gynecology ◽

10.18203/2320-1770.ijrcog20201824 ◽

2020 ◽

Vol 9 (5) ◽

pp. 2157

Author(s):

Kirty Nahar ◽

Usha Bohra ◽

Vivek Arya

Keyword(s):

Hair Loss ◽

Histopathological Examination ◽

Clinical Signs ◽

Signs And Symptoms ◽

Abdominal Hysterectomy ◽

Androgenic Alopecia ◽

Clinical Signs And Symptoms ◽

Significant Regression ◽

Post Menopausal ◽

Work Up

Androgenic alopecia is a patterned hair loss occurring due to systemic androgens and genetic factors. It is the most common cause of hair loss in both genders. The appearance of this condition is the cause of significant stress and psychological problems, making appropriate management important. A 68-year-old postmenopausal female presented with complaints of increased hair loss from scalp, excessive hair growth at undesired sites and hirsutism not corrected with medications. On thorough investigations, CT scan whole abdomen and endocrinological workup, a clinical diagnosis of alopecia and hirsutism due to hyperandrogenemia secondary to ovarian tumor made. Abdominal hysterectomy with B/L salpingo-oophorectomy was done. Histopathological examination revealed an encapsulated tumor in right ovary-sex cord stromal tumor consistent with Leydig cell tumor in right ovary, no evidence of malignancy. Left ovary was normal. Patient showed significant regression of clinical signs and symptoms on follow up after 1 month. All women with severe hirsutism or androgenic alopecia needs further work up to locate the source of androgen over production.

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Spinal Brucellosis: A Case Report and Review of the Literature

Journal of Orthopaedic Case Reports ◽

10.13107/jocr.2021.v11.i03.2060 ◽

2021 ◽

Vol 11 (3) ◽

Author(s):

James M Rizkalla ◽

Khalid Alhreish ◽

Ishaq Y Syed

Keyword(s):

Case Report ◽

Signs And Symptoms ◽

Radiographic Findings ◽

Common Location ◽

Uncommon Case ◽

Spine Surgeon ◽

Patient’S History ◽

Hispanic Male ◽

Work Up ◽

Rare Diagnosis

Introduction: The most common location of infection of brucellosis is the musculoskeletal system. It is estimated that the spine is involved in 2–54% of brucellosis infections, with the lumbar spine most commonly affected. We report an uncommon case of brucellar spondylodiscitis, in addition to the pathology, common presentation, and management of spinal brucellosis through additional literature review. Case Report: A 65-year-old Hispanic male presented to an orthopedic spine surgeon with signs and symptoms concerning for metastatic disease to the spine. Investigation revealed that the patient had the rare diagnosis of brucellar spondylodiscitis. This only became apparent after detailed questioning of the patient’s history revealed his employment within a Mexican meat slaughterhouse and a regular consumer of unpasteurized Mexican cheeses. Conclusion: Although uncommon, brucellosis spondylodiscitis should remain as a differential diagnosis in any patient who presents with back pain and fever. Detailed history taking and thorough physical examination remain vital in the work-up of brucellar spondylodiscitis. Understanding the pathology, radiographic findings, and necessary work-up are essential to properly treat this infection. Keywords: Spine, Brucella, spinal brucellosis, infection, spondylodiscitis, discitis, abscess.

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Non-bacterial thrombotic endocarditis

ESC CardioMed ◽

10.1093/med/9780198784906.003.0395 ◽

2018 ◽

pp. 1728-1729

Author(s):

Patrizio Lancellotti ◽

Stella Marchetta

Keyword(s):

Disease Process ◽

Blood Cultures ◽

Clinical Suspicion ◽

Heart Murmur ◽

Tailored Approach ◽

Platelet Aggregates ◽

Diagnostic Work ◽

Work Up ◽

Underlying Pathology ◽

Diagnostic Work Up

Non-bacterial thrombotic endocarditis (NBTE) is characterized by the presence of sterile vegetations on cardiac valves that consist of fibrin and platelet aggregates. These vegetations are neither associated with bacteraemia nor with destructive changes of the underlying valve. The diagnosis of NBTE relies on strong clinical suspicion in the context of (a) a disease process known to be associated with NBTE, (b) the presence of a heart murmur, (c) a negative blood culture, (d) the presence of vegetations not responding to antibiotic treatment, and (e) evidence of multiple systemic emboli. The same initial diagnostic work-up as for infective endocarditis is recommended. Serial blood cultures, exhaustive haematological and coagulation studies, and a comprehensive echocardiography should be performed. The management of NBTE is challenging and a tailored approach should be advocated. It should first focus on the underlying pathology. In the absence of contraindications, an anticoagulation treatment should be given. Surgical intervention is not recommended unless the patient has clear indications (i.e. heart failure due to valve dysfunction).

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Towards a more pragmatic and wiser approach to infertility care

Human Reproduction ◽

10.1093/humrep/dez101 ◽

2019 ◽

Vol 34 (7) ◽

pp. 1165-1172 ◽

Cited By ~ 4

Author(s):

◽

Siladitya Bhattacharya ◽

J L Hans Evers ◽

Sofia Gameiro ◽

Eva Negri ◽

...

Keyword(s):

Specific Treatment ◽

Signs And Symptoms ◽

Drop Out ◽

Life Habits ◽

Natural Conception ◽

Challenging Situation ◽

Work Up ◽

Favourable Situation ◽

Duration Of Pregnancy

Abstract Infertility represents a very peculiar area of medicine. Contrary to other areas, where signs and symptoms lead to a diagnosis, which in turn leads to a specific treatment, in reproduction the lack of signs and symptoms for more than 12 months suggests the diagnosis of ‘unexplained subfertility’, and if this condition has lasted for some years, couples qualify for IVF. Diagnosis and treatments can extend over long periods of time (even years) and the accuracy of the diagnostic armamentarium is not optimal. Uncertainty about diagnosis and the need for significant perseverance is demanding on both couples and physicians, and actually constitute a very favourable situation for overdiagnosis (‘unexplained subfertility’) and overtreatment (IVF) on one hand, and, on the other, it may also affect compliance with treatments. To improve our capacity to properly handle this challenging situation, increased attention should be given to the duration of pregnancy seeking. Initiating treatments earlier in older women is unwise because this population has a lower fecundity and, therefore, duration of pregnancy seeking is even more important to achieve a reliable diagnosis of infertility. Moreover, if the infertility work-up is unremarkable, duration of pregnancy seeking should be extended up to more than 2 years prior to making a diagnosis of unexplained infertility regardless of age. An adequate period of pregnancy seeking is also required for couples who are diagnosed with conditions that can interfere with fertility to avoid overdiagnosis and overtreatment. Indeed, most causes of infertility will reduce but not impair natural conception. Within this sometimes long-term management, physicians should also pay attention to detrimental life habits in order to optimize the chances of both natural and assisted reproduction technology -mediated pregnancy. Even if interventional studies are not conclusive, it is advisable to address the problems of obesity and smoking. Focussing on frequency of sexual intercourse may be also beneficial for natural conception. Finally, there is the need for improving our capacity to handle compliance. Providing information on the importance of persevering at the start of treatment, promoting shared decision-making and tackling patient, clinic and treatment causes of drop-out can all improve the overall chances of parenthood. Thus, we plead for a wiser and more pragmatic approach to infertility, paying more attention to these neglected, but in our opinion essential, aspects of infertility care.

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Deep fungal infections diagnosed by histology in Uganda: a 70-year retrospective study

Medical Mycology ◽

10.1093/mmy/myaa018 ◽

2020 ◽

Vol 58 (8) ◽

pp. 1044-1052 ◽

Cited By ~ 1

Author(s):

Richard Kwizera ◽

Felix Bongomin ◽

Robert Lukande

Keyword(s):

Fungal Pathogens ◽

Fungal Infections ◽

Clinical Suspicion ◽

The Body ◽

Reference Laboratory ◽

Age Group ◽

Makerere University ◽

General Decline ◽

Diagnostic Capabilities ◽

Substantial Morbidity

Abstract Fungal infections cause substantial morbidity and mortality. However, the burden of deep fungal infections is not well described in Uganda. We aimed to estimate the burden and etiology of histologically diagnosed deep fungal infections in Uganda. We retrospectively reviewed histology reports at the Pathology Reference Laboratory, Department of Pathology, Makerere University, Kampala, Uganda from January 1950 to September 2019 to identify any reports that had a fungal infection as the diagnosis. Over the study period, 697 cases of deep fungal infections were identified with an average incidence of 0.73/100,000 persons per decade. There was a general decline in the number of cases detected. Median age of the cases was 28 years (IQR: 11–40) and majority (59%) were male. The age group of 0–10 years were the most affected. The foot was the most affected part of the body (26%). Deep mycoses identified include eumycetoma (32%), subcutaneous phycomycosis (26%), histoplasmosis (9.2%), chromoblastomycosis (4.6%), aspergillosis (3.3%), cryptococcosis (3.3%), blastomycosis (1.6%), subcutaneous mycosis (1.4%), dermatomycosis (1.3%), coccidioidomycosis (0.6%), mucormycosis (0.6%), and sporotrichosis (0.1%). Histoplasma was the commonest causative agent (9.2%) followed by Aspergillus (3.4%) and Cryptococcus (3.3%), while 81% of the fungal pathogens were not identified to genus/species level. Only 31% of the cases were diagnosed clinically as deep fungal infections. There is a substantial burden of deep fungal infections caused by multiple fungal pathogens in Uganda. There is need to build local capacity for mycology so as to improve on the index of clinical suspicion and diagnostic capabilities.

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