Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021

IntroductionThe J Project (JP) physician education and clinical research collaboration program was started in 2004 and includes by now 32 countries mostly in Eastern and Central Europe (ECE). Until the end of 2021, 344 inborn errors of immunity (IEI)-focused meetings were organized by the JP to raise awareness and facilitate the diagnosis and treatment of patients with IEI.ResultsIn this study, meeting profiles and major diagnostic and treatment parameters were studied. JP center leaders reported patients’ data from 30 countries representing a total population of 506 567 565. Two countries reported patients from JP centers (Konya, Turkey and Cairo University, Egypt). Diagnostic criteria were based on the 2020 update of classification by the IUIS Expert Committee on IEI. The number of JP meetings increased from 6 per year in 2004 and 2005 to 44 and 63 in 2020 and 2021, respectively. The cumulative number of meetings per country varied from 1 to 59 in various countries reflecting partly but not entirely the population of the respective countries. Altogether, 24,879 patients were reported giving an average prevalence of 4.9. Most of the patients had predominantly antibody deficiency (46,32%) followed by patients with combined immunodeficiencies (14.3%). The percentages of patients with bone marrow failure and phenocopies of IEI were less than 1 each. The number of patients was remarkably higher that those reported to the ESID Registry in 13 countries. Immunoglobulin (IgG) substitution was provided to 7,572 patients (5,693 intravenously) and 1,480 patients received hematopoietic stem cell therapy (HSCT). Searching for basic diagnostic parameters revealed the availability of immunochemistry and flow cytometry in 27 and 28 countries, respectively, and targeted gene sequencing and new generation sequencing was available in 21 and 18 countries. The number of IEI centers and experts in the field were 260 and 690, respectively. We found high correlation between the number of IEI centers and patients treated with intravenous IgG (IVIG) (correlation coefficient, cc, 0,916) and with those who were treated with HSCT (cc, 0,905). Similar correlation was found when the number of experts was compared with those treated with HSCT. However, the number of patients treated with subcutaneous Ig (SCIG) only slightly correlated with the number of experts (cc, 0,489) and no correlation was found between the number of centers and patients on SCIG (cc, 0,174).Conclusions1) this is the first study describing major diagnostic and treatment parameters of IEI care in countries of the JP; 2) the data suggest that the JP had tremendous impact on the development of IEI care in ECE; 3) our data help to define major future targets of JP activity in various countries; 4) we suggest that the number of IEI centers and IEI experts closely correlate to the most important treatment parameters; 5) we propose that specialist education among medical professionals plays pivotal role in increasing levels of diagnostics and adequate care of this vulnerable and still highly neglected patient population; 6) this study also provides the basis for further analysis of more specific aspects of IEI care including genetic diagnostics, disease specific prevalence, newborn screening and professional collaboration in JP countries

Bullet embolization to the external iliac artery after gunshot injury to the abdominal aorta: a case report

Abstract Introduction Abdominal vascular trauma is fairly common in modern civilian life and is a highly lethal injury. However, if the projectile is small enough, if its energy is diminished when passing through the tissue and if the arterial system is elastic enough, the entry wound into the artery may close without exsanguination and therefore may not be fatal. A projectile captured may even travel downstream until it is arrested by the smaller distal vasculature. The occurrence of this phenomenon is rare and was first described by Trimble in 1968. Case presentation Here we present a case of a 29-year-old Albanian man who, due to a gunshot injury to the back, suffered fracture of his twelfth thoracic and first lumbar vertebra, injury to the posterior wall of his abdominal aorta and then bullet embolism to his left external iliac artery. It is interesting that the signs of distal ischemia developed several hours after the exploratory surgery, raising the possibility that the bullet migrated in the interim or that there was a failure to recognize it during the exploratory surgery. Conclusion In all cases where there is a gunshot injury to the abdomen or chest without an exit wound and with no projectile in the area, there should be a high index of suspicion for possible bullet embolism, particularly in the presence of the distal ischemia.</p

A decade of civilian vascular trauma in Kosovo

<p>Abstract</p> <p>Purpose</p> <p>We sought to analyze the results of arterial injury management in a busy metropolitan vascular unit and risk factors associated with mortality and morbidity.</p> <p>Patients and methods</p> <p>We analyzed 120 patient with arterial injury treated between year 2000 and 2010 at the University Clinical Center of Kosovo. Seven of these years were prospective and three retrospective study.</p> <p>Results</p> <p>The mechanism of arterial injury was stabbing 46.66%, gunshot wounds in 31.66%, blunt in 13.33%, and landmine in 8.33%. The most frequently injured vessel was the superficial femoral artery (25%), followed by the brachial artery (20.9%), crural arteries (13.1%), forearm arteries (14.3%), iliac arteries (7.5%), abdominal aorta (3.3%), common femoral artery (3.3%) and popliteal artery (3.3%). Associated injuries including bone, nerve and remote injury (affecting the head, chest, or abdomen) were present in 24.2% of patients. The decision to operate was made based on the presence of “hard signs” of vascular trauma. Arterial reconstruction was performed in 90.8% of patients, 5.8% of patients underwent primary amputation and 3.2% died on the operation table. Overall survival rate was 95.8%.</p> <p>Conclusion</p> <p>Injuries to the arteries are associated with significant mortality and morbidity. Mechanism of injury (blunt, gunshot, landmine or stub), hemodynamic stability at the admission, localization of injury, time from injury to flow restitution, associated injuries to the structures in the region and remote organs are critical factors influencing outcome.</p

Intravenous lidocaine suppresses fentanyl-induced cough in Children

OBJECTIVE: Fentanyl-induced cough is usually mild and transitory, but it can be undesirable in patients with increased intracranial pressure, open wounds of the eye, dissecting aortic aneurism, pneumothorax, and reactive airway disease. The aim of this study is to evaluate the efficacy of lidocaine in suppressing fentanyl-induced cough in children during induction in general anesthesia. METHODS: One hundred and eighty-six children of both sexes, aged between 4–10 years, ASA physical status I and II, and scheduled for elective surgery, were recruited for the study. Patients with a history of bronchial asthma, obstructive pulmonary disease, or infections of the respiratory tract were excluded. Patients were randomly allocated to three equal groups (n = 62) to receive 1.0 mg/kg lidocaine (Group I), 0.5 mg/kg lidocaine (Group II), or placebo (equal volume of 0.9% saline; Group III). Each was administered over 5 s one minute before intravenous (IV) administration of fentanyl 2−3 μg/kg during induction in general anesthesia. The severity of coughing was graded by counting the number of episodes of cough: mild (1−2), moderate (3−4) or severe (5 or more). RESULTS: Demographic information was comparable between groups. The most frequent coughing was observed in the placebo group (Group III; 43.5%), of whom 4.8% (three patients) were graded with severe cough. In Group II, 22.6% patients had cough, of which 1.6% (one patient) was graded as severe. In Group I, 16.1% patients had cough, none of whom were graded as severe. CONCLUSION: Our results demonstrate that IV lidocaine can markedly suppress fentanyl-induced cough in children, even in doses as low as 0.5 mg/kg

Gallbladder ascariasis in Kosovo – focus on ultrasound and conservative therapy: a case series

Abstract Background Ascaris lumbricoides is one of the most common intestinal infections in developing countries, including Kosovo. In contrast to migration to the bile duct, migration of the worm to the gallbladder, due to the narrow and tortuous nature of the cystic duct, is rare. When it does occur, it incites acalculous cholecystitis. Case presentations This case series describes a 16-month-old Albanian girl, a 22-month-old Albanian girl, a 4-year-old Albanian girl, and a 10-year-old Albanian boy. Here we report our experience with gallbladder ascariasis including clinical manifestations, diagnostic procedures, and treatment. Fever, diarrhea and vomiting, dehydration, pale appearance, and weakness were the manifestations of the primary disease. In all patients, a physical examination revealed reduced turgor and elasticity of the skin. Abdomen was at the level of the chest, soft, with minimal palpatory pain. The liver and spleen were not palpable. A laboratory examination was not specific except for eosinophilia. There were no pathogenic bacteria in coproculture but Ascaris was found in all patients. At an ultrasound examination in all cases we found single, long, linear echogenic structure without acoustic shadowing containing a central, longitudinal anechoic tube with characteristic movement within the gallbladder. Edema of the gallbladder wall was suggestive of associated inflammation. There were no other findings on adjacent structures and organs. All patients received mebendazole 100 mg twice a day for 3 days. They also received symptomatic therapy for gastroenteritis. Because of elevated markers of inflammation all patients were treated with antibiotics, assuming acute cholecystitis, although ultrasound was able to confirm cholecystitis in only two of our four patients. Since the length of stay was dependent on the primary pathology it was 7 to 10 days. At control ultrasounds on 14th day, third and sixth month, all patients were free of ascariasis. Conclusions Gallbladder ascariasis should be considered in all patients presenting with abdominal pain, distension, colic, nausea, anorexia, and intermittent diarrhea associated with jaundice, nausea, vomiting, fever, and severe radiating pain. Eosinophilia, ova, and parasites on stool examination as well as an anechogenic tube with characteristic movement within the bile duct found on abdominal ultrasound are conclusive for diagnosis. Mebendazole is an effective drug for the treatment. Surgical treatment is rarely needed

DataSheet_2_Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021.docx

IntroductionThe J Project (JP) physician education and clinical research collaboration program was started in 2004 and includes by now 32 countries mostly in Eastern and Central Europe (ECE). Until the end of 2021, 344 inborn errors of immunity (IEI)-focused meetings were organized by the JP to raise awareness and facilitate the diagnosis and treatment of patients with IEI.ResultsIn this study, meeting profiles and major diagnostic and treatment parameters were studied. JP center leaders reported patients’ data from 30 countries representing a total population of 506 567 565. Two countries reported patients from JP centers (Konya, Turkey and Cairo University, Egypt). Diagnostic criteria were based on the 2020 update of classification by the IUIS Expert Committee on IEI. The number of JP meetings increased from 6 per year in 2004 and 2005 to 44 and 63 in 2020 and 2021, respectively. The cumulative number of meetings per country varied from 1 to 59 in various countries reflecting partly but not entirely the population of the respective countries. Altogether, 24,879 patients were reported giving an average prevalence of 4.9. Most of the patients had predominantly antibody deficiency (46,32%) followed by patients with combined immunodeficiencies (14.3%). The percentages of patients with bone marrow failure and phenocopies of IEI were less than 1 each. The number of patients was remarkably higher that those reported to the ESID Registry in 13 countries. Immunoglobulin (IgG) substitution was provided to 7,572 patients (5,693 intravenously) and 1,480 patients received hematopoietic stem cell therapy (HSCT). Searching for basic diagnostic parameters revealed the availability of immunochemistry and flow cytometry in 27 and 28 countries, respectively, and targeted gene sequencing and new generation sequencing was available in 21 and 18 countries. The number of IEI centers and experts in the field were 260 and 690, respectively. We found high correlation between the number of IEI centers and patients treated with intravenous IgG (IVIG) (correlation coefficient, cc, 0,916) and with those who were treated with HSCT (cc, 0,905). Similar correlation was found when the number of experts was compared with those treated with HSCT. However, the number of patients treated with subcutaneous Ig (SCIG) only slightly correlated with the number of experts (cc, 0,489) and no correlation was found between the number of centers and patients on SCIG (cc, 0,174).Conclusions1) this is the first study describing major diagnostic and treatment parameters of IEI care in countries of the JP; 2) the data suggest that the JP had tremendous impact on the development of IEI care in ECE; 3) our data help to define major future targets of JP activity in various countries; 4) we suggest that the number of IEI centers and IEI experts closely correlate to the most important treatment parameters; 5) we propose that specialist education among medical professionals plays pivotal role in increasing levels of diagnostics and adequate care of this vulnerable and still highly neglected patient population; 6) this study also provides the basis for further analysis of more specific aspects of IEI care including genetic diagnostics, disease specific prevalence, newborn screening and professional collaboration in JP countries.</p