Clinical and Laboratory Characteristics of Primary Immunodeficiency Patients from a Tertiary Care Center in Pakistan

Author(s):  
Hamid Nawaz Tipu ◽  
Dawood Ahmed

Abstract Objective: The aim of this study was to describe and identify clinical presentation of primary immunodeficiency disorders (PIDs). Characteristic quantitative and qualitative immunological abnormalities have been described which help in establishing a definitive PID diagnosis. Methods: Cross sectional study in Immunology department, Armed Forces Institute of Pathology, Rawalpindi, Pakistan, from Jan 2016 to Dec 2018. Sixty patients of different PIDs including humoral defects, combined immunodeficiency, phagocytic defects and other miscellaneous disorders, were diagnosed over a period of 3 years in our institute. Their clinical presentation and laboratory data are presented in this study. Results: In 3 years, 40 (66%) males and 20 (33%) females were diagnosed, with 13 (21.6%) patients of humoral deficiency, 22 (36.6%) of severe combined immunodeficiency, 18 (30%) of phagocytic defects and 7 (11.6%) of other miscellaneous disorders. Maximum patients belonged to Punjab province, i.e., 23 (38.3%). Their mean age for initiation of symptoms was 7 + 12.6 months, while diagnosis was made at mean age of 26 + 39.28 months, in all groups combined. Respiratory infections were commonest presentation, in 46 (76.6%) patients. Also 46 (76.6%) patients had consanguineous parents. Presence of family history of PID in 27 (45%) patients is not associated with an earlier diagnosis (p 0.955). Each group of patients carried characteristic laboratory findings. Conclusion: PIDs should be suspected in offsprings with warning signs coming from consanguineous parents. There is a need to introduce genetic diagnosis of PIDs in order to timely diagnose less characteristic PID presentations. Continuous...

2018 ◽  
Vol 8 (1) ◽  
pp. 54-58
Author(s):  
Kenopama Gyawali ◽  
Reisha Rijal ◽  
Shanti Regmi ◽  
Sabina Sedhai ◽  
Shital Adhikari

Background: This study was conducted to elucidate the clinical features, laboratory parameters and management outcome of dengue patients admitted in a tertiary care center of Nepal. Methods: This was a retrospective descriptive study in dengue patients aged 12 years or more who were admitted in Tropical Wards and Intensive Care Unit of Chitwan Medical College Teaching Hospital (CMCTH), Chitwan, Nepal from November 2016 to December 2017. Diagnosis of dengue was confirmed by positive NS1 antigen or ELISA IgM or both. The required data were retrieved from patient’s medical records and laboratory data base. Data analysis was performed by using IBM-SPSS 20. Results: Of 60 patients, majority (65%) were male. Forty-one (68.33%) patients were diagnosed by positive NS1 and 18 (30%) were ELISA IgM positive. In the year 2017, highest numbers of cases (20, 33.33%) were in the month of November, followed by 14 cases (23.33%) in October. Similarly, in the year 2016, dengue cases peaked in the month of November. All patients had fever as a presenting complaint. Other common presenting features were myalgia 42 (70%) and headache 32 (53%). Thrombocytopenia was observed in 52 (86.66%) patients followed by leucopenia in 41 (68.33%) cases. Elevation of AST and ALT were found in 45 (75%) and 38 (63.33%) patients respectively. Only 2 patients (3.3%) had dengue with warning signs. Four (6.8%) patients needed platelet transfusion. No mortality was observed. Conclusions: Majority of dengue patients had thrombocytopenia, leucopenia, and elevated AST and ALT. Only two patients had dengue with warning signs. Hospital mortality was not documented.


2021 ◽  
Vol 12 ◽  
Author(s):  
Vasudha Mantravadi ◽  
Jeffrey J. Bednarski ◽  
Michelle A. Ritter ◽  
Hongjie Gu ◽  
Ana L. Kolicheski ◽  
...  

The implementation of severe combined immunodeficiency (SCID) newborn screening has played a pivotal role in identifying these patients early in life as well as detecting various milder forms of T cell lymphopenia (TCL). In this study we reviewed the diagnostic and clinical outcomes, and interesting immunology findings of term infants referred to a tertiary care center with abnormal newborn SCID screens over a 6-year period. Key findings included a 33% incidence of non-SCID TCL including infants with novel variants in FOXN1, TBX1, MYSM1, POLD1, and CD3E; 57% positivity rate of newborn SCID screening among infants with DiGeorge syndrome; and earlier diagnosis and improved transplant outcomes for SCID in infants diagnosed after compared to before implementation of routine screening. Our study is unique in terms of the extensive laboratory workup of abnormal SCID screens including lymphocyte subsets, measurement of thymic output (TREC and CD4TE), and lymphocyte proliferation to mitogens in nearly all infants. These data allowed us to observe a stronger positive correlation of the absolute CD3 count with CD4RTE than with TREC copies, and a weak positive correlation between CD4RTE and TREC copies. Finally, we did not observe a correlation between risk of TCL and history of prenatal or perinatal complications or low birth weight. Our study demonstrated SCID newborn screening improves disease outcomes, particularly in typical SCID, and allows early detection and discovery of novel variants of certain TCL-associated genetic conditions.


2017 ◽  
Vol 53 ◽  
pp. 248-253
Author(s):  
E. S. Cheburanova ◽  
O. A. Epishko ◽  
T. I. Kuzmina

Objective: identification of carrier animals of the hereditary anomaly SCID and HYPP of the population of horses bred on breeding horse farms of the Republic of Belarus. Methods: genetic, biological. DNA diagnosis of genotypes in the gene severe combined immunodeficiency (SCID) and hyperkaliemic periodic paralysis (HYPP) was performed using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) in the research laboratory «DNA Technology» of educational establishment «Grodno State Agrarian University». We tested 50 horses of different breeds, kept on different breeding horse farms of Belarus. DNA was isolated from buccal epithelium by perchlorate method with double purification (according to the method of Zinovieva). A study of the genetic structure of the horse population for hereditary anomalies of severe combined immunodeficiency and hyperkalemic periodic paralysis was performed using modern equipment. Amplification was carried out using the C1000 Touch thermal cycler (BioRad, USA). The visualization of the gel was carried out using the gel-documenting system Gel Doc XR + (Bio- Rad, USA). Main results. The use of modern methods for the genetic diagnosis of hereditary diseases of agricultural animals not only at birth to exclude from the process of reproduction of animal carriers of hereditary anomalies, but also reduces funding for their maintenance and cultivation. In the studies we used the PCR method based on the use of specific oligonucleotides with which the amplification of the necessary fragment of the 163 gene occurs in healthy individuals and 158 in the mutation carriers, which makes it possible to identify the hereditary SCID disease. We tested 50 animals of the upper and Arabian breeds, as well as horses with an admixture of Arabian blood, among which no carriers of the hereditary anomaly were found. In studies, the PCR-RFLP analysis method was used, based on the use of distinctive primers due to which the necessary fragment of the gene is amplified, which makes it possible to identify the hereditary HYPP disease. Amplified fragments were subjected to the action of restriction enzymes, with the help of which it is possible to determine the genotype of the animal under study. We tested 50 animals of the upper and Arabian breeds, as well as horses with an admixture of Arabian blood, among which no carriers of the hereditary anomaly were found. Conclusions. Severe combined immunodeficiency (SCID) is an autosomal recessive disease that occurs in humans, mice, horses and dogs. Carriers of this hereditary disease are born without visible anomalies, but after 2 weeks they become ill from any infection and die, since they can not develop an antigen-specific immune response. Hyperkaliemic periodic paralysis (HYPP) is an autosomal dominant disease that occurs in horses at the age of 2, when the animal begins, is strengthened to exercise. Symptoms of this disease are weakness of the muscles, periodic spasms, paralysis, which can lead to death. Presumably, there were no carriers of severe combined immunodeficiency in the Republic of Belarus, since breeding farms for breeding horses did not use biological material of Arabian and local breeds of horses for insemination. With subsequent importation of Arabian horses, as well as breeds that have an admixture of Arab blood, it is necessary to conduct DNA testing for the presence of severe combined immunodeficiency (SCID). According to the results of the conducted studies to identify the hereditary disease of hyperkalemic periodic paralysis (HYPP) in the horse population, no carriers were found, as well as sick animals. Presumably, there were no carriers of this disease on the territory of the republic, as evidenced by parallel studies conducted in other European countries, where no carrier or sick animal was found. This suggests that the disease was localized during the time, and also did not leave the territory of the American continent.


Author(s):  
Bhagirath Singh ◽  
Indira Subhadarshini Paul

<p class="abstract"><strong>Background:</strong> Pediatric dermatoses require a separate view from adult dermatoses as there are important differences in clinical presentation, treatment and prognosis. There is very little epidemiological study available on non-infectious childhood dermatoses in India. The aims of the study were to find the prevalence, clinical profile and various etiological factors associated with childhood non-infectious dermatoses and to determine the prevalence of most common non-infectious childhood dermatoses.</p><p class="abstract"><strong>Methods:</strong> This cross-sectional observational study conducted at tertiary care centre in Rajasthan, India. Children with age 13 years and below with clinical evidence of cutaneous disorders were studied. Parents who have not given consent for the study, acutely ill children, Children having infectious dermatoses (bacterial, fungal, viral, arthropods, parasitic and protozoal infection) were excluded from the study.<strong></strong></p><p class="abstract"><strong>Results:</strong> A total of 232 cases were studied which showed a female preponderance of 55.60%. Most of the skin diseases were seen in the 5 to 13 years (school children) age group. The most common dermatoses was eczematous (36.63%), among eczema atopic diathesis was the commonest (17;20%) followed by hypersensitivity dermatoses (21.12%), genetic disorders (13.36%), disorders of genetic disorders (7.4%), sweat gland disorders (8.18%), pigmentary disorders (4.31%), papulo squamous disorders (4.74%), Nevi (6.46%).</p><p class="abstract"><strong>Conclusions:</strong> Eczematous dermatoses were the most commonly noted in the study, followed by hypersensitivity dermatoses. Atopic diathesis was the commonest endogenous eczemas. Acne, insect bite reaction and miliaria were the other common dermatoses. There was no significant association of various dermatoses with systemic diseases in the study.</p>


2018 ◽  
Vol 10 (04) ◽  
pp. 401-405 ◽  
Author(s):  
Sukanya Sudhaharan ◽  
Padmaja Kanne ◽  
Lakshmi Vemu ◽  
Aparna Bhaskara

ABSTRACT BACKGROUND: Infection with Salmonella has become an increasing problem worldwide. Recently, nontyphoid Salmonella (NTS) has become a global concern causing threat to the health of human. It causes gastrointestinal infection which may be self-limiting, but invasive infections may be fatal, requiring appropriate therapy. This study was done to analyze the spectrum of NTS infections causing extraintestinal infections and its susceptibility pattern from a tertiary care center in India. MATERIALS AND METHODS: The medical records of 27 patients whose cultures were positive for NTS between the years 2013–2016 were included in this retrospective study. The relevant demographic, clinical, and laboratory data were analyzed. RESULTS: Among the 27 patients, predominant patients were in the age group of 20–30 years. The male to female ratio is 1.7:1. Salmonella typhimurium was the predominant NTS isolated among 15/27 (55.5%), followed by Salmonella enteritidis 4/27 (14.8%). 18/27 (66.6%) of NTS were isolated from blood. Nalidixic acid was sensitive in 2/15 of S. typhimurium, 2/4 of S. enteritidis and 1/3 of Salmonella weltevreden, while others are nalidixic acid-resistant implying resistance to quinolones. They were sensitive to other antibiotics reported. CONCLUSION: This study highlights the spectrum of NTS causing extraintestinal infections which is an emerging infection occurring mostly in immunosuppressed individuals. There should be a high degree of clinical suspicion which would help in the early diagnosis and management of patients.


2019 ◽  
Vol 6 (Supplement_2) ◽  
pp. S540-S540
Author(s):  
Bhavana Surapareddy ◽  
Muralidhar Varma ◽  
Shashidhar V

Abstract Background Leptospirosis is the most widespread zoonotic disease in the world. In India, it is endemic in coast lined states. Renal failure is a severe complication with mortality approaching 22%, early recognition of which helps clinicians in acting fast. This study aimed to investigate the predictors of Acute Kidney Injury (AKI) in Leptospirosis Methods This is a prospective, case–control study done in a tertiary care center in Southern India carried out between October 2017 and December 2018. Patients with confirmed Leptospirosis as per CDC 2013 and Faine’s criteria (2012) having AKI as per KDIGO criteria were defined as cases. Subjects without AKI were controls. Demographic, clinical and laboratory data were compared between the groups and analyzed. Logistic regression was performed to analyze the possible risk factors associated with AKI in Leptospirosis. Results A total of 329 subjects met the inclusion criteria of the study. 187 patients with AKI (CASES) and 142 patients without AKI (CONTROLS) were studied. Patients with AKI were older, (mean age- 46.99 ± 13.21 vs. 42.99 ± 15.15 years) had longer hospital stay (9.04 ± 5.62 vs. 6.27 ± 3.27 days) had higher SOFA (7.97 ±2.9 vs. 3.37 ± 2.6) and APACHE 2 scores (14.37±5.93 vs. 4.66 ± 4.4), lower mean arterial pressure (84.01 ± 14.45 vs. 89.01 ± 10.63 mmHg; P = 0.001) lower serum bicarbonate level (21.70 ± 2.35 vs. 18.73 ± 3.78 mEq/dL; P < 0.001). Factors like serum lactate, AST, ALT had no significant difference between the groups. Serovar identification was done in 88 patients, of which 57 had AKI. Australis (16.7%), Pyrogenes (16.7%) and Grippotyphosa (11.1%) were the commonest serovars isolated. Serovar most commonly associated with AKI was Pyrogenes (17.5%) Predictors for AKI were jaundice (P = 0.01, OR 2.25; CI 1.21 –3.26), vomiting (P = 0.017, OR 1.9, CI 1.12- 3.26) Hypotension (P = 0.02, OR = 12.3, CI 1.85 – 107.2), tachypnea (P = 0.006, OR = 2.55, CI 1.11- 3.24), leukocytosis (P < 0.001, OR 5.45, CI 1.86- 4.89), thrombocytopenia (P < 0.001, OR 6.49, CI 2.33 – 6.75) Conclusion Identification of features like hypotension, tachypnea, acidosis, leukocytosis, thrombocytopenia, the occurrence of serovar Pyrogenes should alert the clinician on risk of developing AKI Disclosures All authors: No reported disclosures.


2019 ◽  
Vol 11 (02) ◽  
pp. 111-117 ◽  
Author(s):  
Nermin Kamal Saeed ◽  
Safaa Alkhawaja ◽  
Nashawa Fawzy Abd El Moez Azam ◽  
Khalil Alaradi ◽  
Mohammed Al-Biltagi

Abstract PURPOSE: The purpose of the study is to estimate the rate of infection with carbapenem-resistant Enterobacteriaceae (CRE) in the main governmental tertiary care hospital in Bahrain. MATERIALS AND METHODS: All clinical samples with positive growth of CRE over 6-year period (January 2012–December 2017) were collected from the microbiology laboratory data. RESULTS: The CRE incidence was high in the first half of study period (2012–2014) and then decreased between 2015 and 2017, after implementation of intensified CRE control measure bundle. About 49.4% of CRE-positive samples were isolated from the elderly age group (above 65 years old), most of them were admitted in the intensive care unit (ICU). The most common isolated organisms were Klebsiella pneumoniae (87.0%), followed by Escherichia coli (7.9%). Isolates from deep tracheal aspirate and midstream urine specimens were the most common source of CRE isolates (27.3%) and (26.3%), respectively. Bacteremia was documented in 21.2% of cases. CRE isolates in the study showed high rates of resistance to aminoglycosides (72.2% resistant to amikacin and 67.3% to gentamicin). Alternatively, most isolates retained their susceptibility to colistin and tigecycline with sensitivity of 83.9% and 85.7%, respectively. Combined resistance to both colistin and tigecycline was observed in 0.06% of total isolates. CONCLUSION: Elderly population and ICU admission were important risk factors for CRE acquisition. Most of CRE isolates were sensitive to both colistin and tigecycline, which make them the best combination for empiric frontline therapy for suspected serious CRE infection in our facility. Implementing CRE-bundled infection control measures significantly reduced the incidence of CRE infection in our hospital.


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