Adverse Effects of COVID-19 Vaccination in Patients with Transfusion-Dependent Thalassemia: An Observational Study from a Tertiary Care Center in Punjab, India.

Vaccination against SARS-CoV-2 is the most important weapon in the arsenal in the battle against COVID-19. There is concern about an increased risk of adverse effects in patients with transfusion-dependent thalassemia (TDT), which affects vaccine acceptance. A predesigned questionnaire was used to evaluate adverse effects (local/systemic within 90 days after vaccination) in participants >18 years of age with TDT. A total of 100 patients received 129 vaccine doses. The mean age of the patients was 24.3 ± 5.7 years, and M:F ratio of 1.6:1. Covishield (Serum Institute of India) was administered to 89% of the participants, and Covaxin (Bharat Biotech Limited) to 11% of the participants. Adverse effects were documented in 62% of the respondents and were more pronounced after the first dose (52%) compared to the second dose (9%). The most frequent adverse effects were pain at the injection site (43%) and fever (37%). All adverse effects were mild and none of the participants required hospitalization. There were no differences in adverse effects among different vaccines, in the presence or absence of comorbidities, blood groups, or ferritin levels. The SARS-CoV-2 vaccine appears to be safe for patients with TDT.

Prevalence, Severity, and Determinants of Pain in Thalassemia.

As the life expectancy in thalassemia is improving, pain is being recognized as an emerging problem. To document the pain prevalence and severity in patients with transfusion-dependent thalassemia all transfusion-dependent thalassemia patients >10 years of age (n = 165) attending the Thalassemia Day Care Center were assessed for pain prevalence, severity, and its effect on various life activities using the Brief Pain Inventory. Their medical records were reviewed for the presence of various co-morbidities. Pain was reported by 62.4% of participants with 35.2% and 59.4% of participants, reporting pain in the past 1 and 4 weeks respectively. A significantly higher pain prevalence was reported in females (p = .037), patients residing in urban areas (p = .038), and employed participants (p = .038). The commonest sites of pain were the lower back and calves. General activity (p = .02) and enjoyment of life (p = .02) were significantly affected due to pain in patients between 21 and 30 years of age. Female participants reported interference of pain with mood (p = .03). A significant correlation of pain prevalence was found with higher average serum ferritin (p = .015), moderate to severe liver iron concentration (p = .04), and lower levels of 25 hydroxyvitamin D levels (p = .03). Pain is an emerging cause of morbidity in thalassemia. The study found a significant association of pain with modifiable factors such as serum ferritin, LIC, and 25 (OH) vitamin D levels.

Considerations for Peripheral Blood Stem Cell Apheresis in a Low Body Weight Infant.

INTRODUCTION: Peripheral blood stem cell (PBSC) apheresis in infants (<10 kg body weight) requires specific precautions to prevent periprocedural complications. CASE REPORT: A 9 month old child was diagnosed with high-risk neuroblastoma and planned for autologous stem cell transplantation after induction chemotherapy. We illustrate the precautions and technical details observed while performing PBSC collection in this patient. DISCUSSION: Use of continuous flow devices, priming of apheresis circuits, appropriate flow rates and continuous monitoring can help to mitigate several procedure related complications. CONCLUSIONS: PBSC apheresis in infants (<10 Kg) is safe and feasible with appropriate precautions detailed above.

Body image issues and self-concept dilemmas in adolescents living with thalassemia.

Thalassemia, a genetic blood disorder, involves an inability to produce sufficient hemoglobin and comprises two types: alpha thalassemia and beta thalassemia. Beta thalassemia's immediate treatment measures include frequent blood transmissions, stem cell and bone marrow transplants; all capable of altering an individual's idea of body image, self-concept, growth, and socialization, resulting in several emotional, psychological, and behavioral concerns. This study aimed at comprehending the dilemmas of body image and self-concept encountered by adolescents with thalassemia, particularly the resulting influence on physical development and socialization. Using the phenomenological interpretivism approach of qualitative research, data was collected using purposive-convenient sampling from 11 adolescents, both boys and girls ranging from ages 12 to 18, living with thalassemia and undergoing treatment. The research highlights adolescent concerns with body image, specifically with complexion, facial features, being either underweight or overweight, all amalgamating into a self-concept dilemma. Moreover, results point to the significant influence of experiences with family, peers, educational institutions, and hospital staff. Therapeutic attention, through regular screening and counselling, should be provided to adolescent thalassemia patients to address the psychological aspects of the chronic illness.

Oral cyclophosphamide therapy in 100 children with steroid-sensitive nephrotic syndrome: experience from a developing country.

BACKGROUND: Oral cyclophosphamide (CYP) is an important therapeutic agent in treatment of steroid-sensitive nephrotic syndrome having a steroid-dependent (SD) or frequent relapsing (FR) course. This retrospective observational study aimed to determine response to oral CYP and factors associated with positive response in these patients. METHODS: We studied 100 children (male; 75) with FR (19%) and SD (81%) NS treated with CYP in the Pediatric Nephrology clinic. Responders were defined as children in whom steroids were stopped for at least 6 months following CYP and factors affecting response were analysed. Relapse-free survival was estimated by Kaplan-Meier method. RESULTS: Median age at onset of NS was 3 years (IQR 2-5.2). Median age at CYP was 5.7 years (IQR 3.7-7.9). Fifty percent of patients were in the responder group at 6 months of CYP. Relapse-free survival post CYP therapy was 31% at 1 year, 11% at 2 years. Factors predicting good response were age at onset of NS > 3 years with 61.2% response at 6 months (p = 0.028) and older age at CYP initiation (> 5 years) with 61% response (p = 0.008). Multivariate regression analysis showed age at start of CYP > 5 years was an independent factor for good response (p = 0.044, OR = 2.903, CI -1.03 to 8.18). CONCLUSIONS: Judicious selection of patients, especially with age of onset of NS more than 3 years and initiation of CYP after age of 5 years, can predict better response in this group of patents.

Cost Effectiveness of Hematopoietic Stem Cell Transplantation Compared with Transfusion Chelation for Treatment of Thalassemia Major.

Hematopoietic stem cell transplantation (HSCT) is the only cure for thalassemia major (TM), which inflicts a significant 1-time cost. Hence, it is important to explore the cost effectiveness of HSCT versus lifelong regular transfusion-chelation (TC) therapy. This study was undertaken to estimate incremental cost per quality-adjusted life-year (QALY) gained with the intervention group HSCT, and the comparator group TC, in TM patients. A combination of decision tree and Markov model was used for analysis. A hospital database, supplemented with a review of published literature, was used to derive input parameters for the model. A lifetime study horizon was used and future costs and consequences were discounted at 3%. Results are presented using societal perspective. Incremental cost per QALY gained with use of HSCT as compared with TC was 64,096 (US$986) in case of matched related donor (MRD) and 1,67,657 (US$2579) in case of a matched unrelated donor transplantation. The probability of MRD transplant to be cost effective at the willingness to pay threshold of Indian per capita gross domestic product is 94%. HSCT is a long-term value for money intervention that is highly cost effective and its long-term clinical and economic benefits outweigh those of TC.

Utilization of the renal angina index in PICU of a developing country for prediction of subsequent severe acute kidney injury.

BACKGROUND: Acute kidney injury (AKI) is independently associated with worsened morbidity and increased mortality in the pediatric intensive care unit (PICU). AKI risk score, termed renal angina index (RAI) is used in developed countries to predict subsequent severe AKI. Very few studies have investigated application of RAI in the PICU of a developing country. This prospective observational study aimed to predict severe subsequent AKI in children admitted to PICU using RAI. METHODS: Over 1 year, children admitted to PICU aged 1 month-18 years old, with no previous kidney disease, were included. RAI was assessed from 8 to 12 h of PICU admission (day 0). RAI was calculated from product of the renal risk and renal injury score. Renal angina positivity was defined as RAI ≥ 8. On day 3, serum creatinine was estimated and estimated glomerular filtrration rate (eGFR) calculated. RAI was correlated with presence/absence of subsequent (day 3) severe AKI. RAI positivity was also correlated with duration of PICU stay, need for dialysis, mechanical ventilation, and mortality. RESULTS: RAI positivity was seen in 16.7% cases, of which 36.2% developed AKI at 4 days vs. 2.3% in RAI-negative cases (p < 0.001). Mean duration of PICU stay in the RAI-positive group was 7.19 ± 5.13 days vs. 4.72 ± 2.71 days in the RAI-negative group (p < 0.001). Mortality was seen in 31.9% of RAI-positive cases vs. 2% in RAI-negative cases (p < 0.001). CONCLUSIONS: RAI could be used as a simple and important bedside tool to predict patients at risk of severe AKI.

Comparison of Noninvasive Oscillometric and Intra-Arterial Blood Pressure Measurements in Children Admitted to the Pediatric Intensive Care Unit.

Intra-arterial blood pressure (IABP) measurement, although considered the gold standard in critically ill children, is associated with certain risks and lacks widespread availability. This study was conducted to determine the differences and agreements between oscillometric non-invasive blood pressure (NIBP) and invasive IABP measurements in children. Inclusion criteria consisted of children (from 1 month to 18 years) admitted to the pediatric intensive care unit (PICU) of a teaching hospital who required arterial catheter insertion for blood pressure (BP) monitoring. The comparison between IABP and NIBP was studied using paired t -test, Bland-Altman analysis, and Pearson's correlation coefficient. In total, 4,447 pairs of simultaneously recorded hourly NIBP and IABP measurements were collected from 65 children. Mean differences between IABP and NIBP were -3.6 ± 12.85, -4.7 ± 9.3, and -3.12 ± 9.30 mm Hg for systolic, diastolic, and mean arterial BP, respectively ( p < 0.001), with wide limits of agreement. NIBP significantly overestimated BP ( p < 0.001) in all three BP states (hypotensive, normotensive, and hypertensive), except systolic blood pressure (SBP) during hypertension where IABP was significantly higher. The difference in SBP was most pronounced during hypotension. The difference in SBP was significant in children <10 years ( p < 0.001), with the maximum difference being in infants. It was insignificant in adolescents ( p = 0.28) and underweight children ( p = 0.55). NIBP recorded significantly higher BP in all states of BP except SBP in the hypertensive state. SBP measured by NIBP tended to be the most reliable in adolescents and underweight children. NIBP was the most unreliable in infants, obese children, and during hypotension.

Spectrum of magnetic resonance abnormalities in leigh syndrome with emphasis on correlation of diffusion-weighted imaging findings with clinical presentation.

Background: Leigh syndrome (LS) is a progressive neurodegenerative disorder of infancy/early childhood secondary to mitochondrial dysfunction. Imaging plays a pivotal role in the diagnosis of LS with certain typical magnetic resonance imaging (MRI) findings considered as a part of diagnostic criteria. We appraised various MRI findings on conventional MRI sequences and also assessed potential correlation between diffusion abnormalities and patient's clinical presentation. Aims: Our aim was to describe various patterns of central nervous system involvement in LS and to assess the correlation of diffusion-weighted imaging abnormalities with clinical presentation. Settings and Design: The design of the study was retrospective comprising 8 children with LS who had MRI between years 2014 and 2019. Subjects and Methods: Eight children between the age group of 4 months 8 years with LS based on clinical presentation, elevated lactate levels in CSF/Blood, and typical MRI findings were included in the study. Results and Conclusions: Brainstem was involved all (100%) patients while basal ganglia was affected in 5 (62.5%) children. Cerebral white matter involvement was present in 3 (37.5%) children, cerebellar in 2 (25%) children while spinal, corpus callosum, and thalamic involvement were observed in one (12.5%) patient each. Diffusion restriction was observed in 6 children, all of them presented with altered sensorium. Conventional MRI serves as an excellent tool for the diagnosis of LS in children with clinical suspicion. Acute encephalopathy frequently presents with diffusion restriction corresponding to active lesions. Hence, diffusion restriction on MRI predicts the activity of lesions in patients with LS.

Résumé Contexte: Le syndrome de Leigh (LS) est une maladie neurodégénérative progressive de la petite enfance/petite enfance secondaire à des maladies mitochondriales. dysfonctionnement. L'imagerie joue un rôle central dans le diagnostic du LS, certains résultats typiques de l'imagerie par résonance magnétique (IRM) étant considérés comme une partie des critères diagnostiques. Nous avons évalué divers résultats d'IRM sur des séquences d'IRM conventionnelles et également évalué la corrélation potentielle entre anomalies de diffusion et présentation clinique du patient. Objectifs: Notre objectif était de décrire divers modèles d'atteinte du système nerveux central dans le LS et pour évaluer la corrélation des anomalies d'imagerie pondérées en diffusion avec la présentation clinique. Paramètres et conception: la conception de l'étude était rétrospective comprenant 8 enfants atteints de LS qui ont eu une IRM entre les années 2014 et 2019. Sujets et méthodes: Huit enfants entre le groupe d'âge de 4 mois 8 ans avec LS basé sur la présentation clinique, les niveaux élevés de lactate dans le LCR/le sang, et typique Les résultats de l'IRM ont été inclus dans l'étude. Résultats et conclusions : Le tronc cérébral a été impliqué chez tous les patients (100 %) tandis que les ganglions de la base ont été impliqués. touché chez 5 (62,5%) enfants. Une atteinte cérébrale de la substance blanche était présente chez 3 (37,5%) enfants, cérébelleuse chez 2 (25%) enfants alors que Une atteinte de la colonne vertébrale, du corps calleux et du thalamus a été observée chez un patient (12,5 %) chacun. Une restriction de diffusion a été observée chez 6 enfants, tous présentaient un sensorium altéré. L'IRM conventionnelle est un excellent outil pour le diagnostic du LS chez les enfants présentant des soupçon. L'encéphalopathie aiguë se présente fréquemment avec une restriction de diffusion correspondant à des lésions actives. Par conséquent, la restriction de diffusion sur L'IRM prédit l'activité des lésions chez les patients atteints du LS. Mots-clés : ganglions de la base, tronc cérébral, imagerie pondérée en diffusion, hypotonie, lactate sérique.

Adherence to Iron Chelation Therapy and Its Determinants.

Background: Thalassemia is a chronic disease requiring lifelong treatment. The adherence to regular iron chelation therapy is important to ensure complication-free survival and good quality of life. The study aim to assess the adherence to iron chelation therapy (ICT) in patients with transfusion-dependent thalassemia (TDT), evaluate various causes of non-adherence and study the impact of non-adherence on the prevalence of complications secondary to iron overload. Materials and Methods: Patients with TDT on ICT for > 6 months were enrolled in the study. Hospital records were reviewed for demographic details, iron overload status, treatment details, and the prevalence of complications. A study questionnaire was used to collect information on adherence to ICT, knowledge of patients, and the possible reasons for non-adherence.   Results:  A total of 215 patients with a mean age of 15.07+7.68 years and an M: F ratio of 2.2:1 were included in the study. Non-adherence to ICT was found in 10.7% of patients. Serum ferritin levels were significantly higher in the non-adherent group (3129.8+1573.2 µg/l) than the adherent population (2013.1+1277.1 µg/l). Cardiac as well as severe liver iron overload was higher in the non-adherent patients. No correlation was found between disease knowledge and adherence to ICT. Difficulties in drug administration and many medicines to be taken daily were statistically significant reasons for non-adherence. There was no difference in the co-morbidities arising due to the iron overload in the two groups. Conclusion: Nearly 11% of patients with TDT were non-adherent to ICT. Non-adherence results in higher iron overload.

Osteomalacic Myopathy in Children and Adolescents with Vitamin-D Deficiency.

BACKGROUND: Osteomalacic myopathy secondary to vitamin-D deficiency is an under-recognized cause of muscle weakness in children and adolescents. AIM: To describe a cohort of children and adolescents with osteomalacic myopathy. SETTINGS AND DESIGN: Pediatric neurology unit of a tertiary care hospital. METHODS AND MATERIAL: Charts of children and adolescents with osteomalacic myopathy were retrospectively reviewed for demographics, clinical presentation, laboratory investigations, and treatment response. Diagnosis of vitamin-D deficiency was made on the basis of a combination of clinical, biochemical, and radiographic findings. Response to treatment with vitamin-D confirmed vitamin-D deficiency as the cause of myopathic symptoms. RESULTS: Twenty-six children-15 girls and 11 boys aged between 20 months and 19 years-with osteomalacic myopathy were identified. Fifteen (58%) children were between 10 years and 19 years of age. Twenty-one (81%) children presented with myopathic symptoms of progressive walking difficulty, with eventual loss of ambulation in six. Four children came to attention through hypocalcemic seizures. One nonambulatory child with cerebral palsy presented with loss of previously attained ability to roll over and sit. All children had proximal muscle weakness on examination. Fifteen (58%) children had clinical signs of rickets. All the children who underwent biochemical (n = 24) and radiographic (n = 16) investigations had results consistent with vitamin-D deficiency. Only in one child, the diagnosis of osteomalacic myopathy was made on the basis of clinical findings. Response to vitamin D was uniformly good. CONCLUSIONS: Vitamin-D deficiency should be considered in the differential diagnosis of proximal myopathy in children and adolescents.

Comparison of Clinical Features and Outcome of Dengue Fever and Multisystem Inflammatory Syndrome in Children Associated With COVID-19 (MIS-C).

OBJECTIVE: To identify clinical and laboratory features that differentiate dengue fever patients from MIS-C patients and determine their outcomes. Methods: This comparative cross-sectional study was done at a tertiary care teaching institute. We enrolled all hospitalized children aged 1 month - 18 years and diagnosed with either MIS-C and/or dengue fever according to WHO criteria between June and December, 2020. Clinical and laboratory features and outcomes were recorded on a structured proforma. RESULTS: During the study period 34 cases of MIS-C and 83 cases of Dengue fever were enrolled. Mean age of MIS-C cases (male, 86.3%) was 7.89 (4.61) years. MIS-C with shock was seen in 15 cases (44%), MIS-C without shock in 17 cases (50%) and Kawasaki disease-like presentation in 2 cases (6%). Patients of MIS-C were younger as compared to dengue fever (P=0.002). Abdominal pain and erythematous rash were more common in dengue fever. Of the inflammatory markers, mean C reactive protein was higher in MIS-C patients [100.2 (85.1) vs 16.9 (29.3) mg/dL] (P<0.001). In contrast, serum ferritin levels were higher in dengue fever patients (P=0.03). Mean hospital stay (patient days) was longer in MIS- C compared to dengue fever (8.6 vs 6.5 days; P=0.014). CONCLUSION: Clinical and laboratory features can give important clues to differentiate dengue fever and MIS-C and help initiate specific treatment.

A Concise Review on the Frequency, Major Risk Factors and Surveillance of Hepatocellular Carcinoma (HCC) in ß-Thalassemias: Past, Present and Future Perspectives and the ICET-A Experience.

Due to the recent alarming increase in the incidence of hepatocellular carcinoma (HCC) in thalassemias, the present report reviews briefly the frequency, the major risk factors, and the surveillance of HCC in ß-thalassemias. Over the past 33 years, 153 cases of HCC were reported in patients with thalassemia, mainly in Italy and Greece. Among HCV-infected patients, additional factors promoting the development of HCC included: advanced age, male sex, chronic hepatitis B (CHB) co-infection, and iron overload. For early diagnosis of HCC, sequential ultrasound screening is recommended especially for thalassemia patients with chronic hepatitis C (CHC), which coincides with (one or more) additional risk factors for HCC. Here we report also the preliminary data from thalassemic patients, above the age of 30 years, followed in 13 ICET-A centers. The total number of enrolled patients was 1,327 (males: 624 and 703 females). The prevalence of HCC in thalassemia major patients [characterized by transfusion-dependency (TDT)] and thalassemia intermedia [characterized by nontransfusion dependency (NTDT)] was 1.66 % and 1.96 %, respectively. The lowest age at diagnosis of HCC was 36 years for TDT and 47 years for NTDT patients. We hope that this review can be used to develop more refined and prospective analyses of HCC magnitude and risk in patients with thalassemia and to define specific international guidelines to support clinicians for early diagnosis and treatment of HCC in thalassemic patients.

Marital status and paternity in patients with Transfusion- Dependent Thalassemia (TDT) and Non Transfusion-Dependent Thalassemia (NTDT): an ICET - A survey in different countries.

BACKGROUND: More than five decades ago, thalassemia major (TDT) was fatal in the first decade of life. Survival and quality of life have improved progressively thanks to the implementation of a significant advance in diagnostic and therapeutic methods, consisting mainly of a frequent transfusion program combined with intensive chelation therapy. Improvement also includes imaging methods used to measure liver and cardiac iron overload. Improved survival has led to a growing number of adults requiring specialised care and counselling for specific life events, such as sexual maturity and acquisition of a family. AIMS OF THE STUDY: The main aim is to present the results of a survey on the marital and paternity status in a large population of adult males with TDT and NTDT living in countries with a high prevalence of thalassemia and a review of current literature using a systematic search for published studies. RESULTS: Ten out of 16 Thalassemia Centres (62.5%) of the ICET-A Network, treating a total of 966 male patients, aged above 18 years with ß- thalassemias (738 TDT and 228 NTDT), participated in the study. Of the 966 patients, 240 (24.8%) were married or lived with partners, and 726 (75.2%) unmarried. The mean age at marriage was 29.7 ± 0.3 years. Of 240 patients, 184 (76.6%) had children within the first two years of marriage (2.1 ± 0.1 years, median 2 years, range 1.8 - 2.3 years). The average number of children was 1.32 ± 0.06 (1.27 ± 0.07 in TDT patients and 1.47 ± 0.15 in NTDT patients; p: >0.05). Whatever the modality of conception, 184 patients (76.6%) had one or two children and 1 NTDT patient had 6 children. Nine (4.8%) births were twins. Of 184 patients, 150 (81.5%) had natural conception, 23 (12.5%) required induction of spermatogenesis with gonadotropins (hCG and hMG), 8 (4.3%) needed intracytoplasmic sperm injection (ICSI) and 3 adopted a child. 39 patients with TDT and NTDT asked for medical help as they were unable to father naturally: 7 TDT patients (17.9%) were azoospermic, 17 (37.7%) [13 with TDT and 4 with NTDT] had dysspermia and 15 (33.3%) [13 with TDT and 2 with NTDT] had other "general medical and non-medical conditions". CONCLUSIONS: Our study provides detailed information in a novel area where there are few contemporary data. Understanding the aspects of male reproductive health is important for physicians involved in the care of men with thalassemias to convey the message that prospects for fatherhood are potentially good due to progressive improvements in treatment regimens and supportive care.

An ICET-A survey on occult and emerging endocrine complications in patients with ß-thalassemia major: Conclusions and recommendations.

In adult thalassemia major (TM) patients, a number of occult and emerging endocrine complications, such as: central hypothyroidism (CH), thyroid cancer, latent hypocortisolism, and growth hormone deficiency (GHD) have emerged and been reported. As the early detection of these complications is essential for appropriate treatment and follow-up, the International Network of Clinicians for Endocrinopathies in Thalassemia and Adolescent Medicine (ICET-A) promoted a survey on these complications in adult TM patients, among physicians (pediatricians, hematologists and endocrinologists) caring for TM patients in different countries. The data reported by 15 countries are presented.The commonest endocrine complications registered in 3.114 TM adults are CH and GHD (4.6 % and 3.0 %, respectively), followed by latent hypocortisolism (1.2%). In 13 patients (0.41%) a cytological papillary or follicular thyroid carcinoma was diagnosed in 11 and 2 patients, respectively, and a lobectomy or thyroidectomy was carried out. Of 202 TM patients below the age of 18 years, the  reported endocrine complications were: GHD in 4.5%, latent hypocortisolism in 4.4% and central hypothyrodisim in 0.5%. Transition phase was an area of interest for many clinicians, especially as patients with complex chronic health conditions are responding to new treatments extending their lifespan beyond imagination.. In conclusion, our survey provides a better understanding of  physicians' current clinical practices and beliefs in the detection, prevention and treatment of some endocrine complications prevailing in adult TM patients. Regular surveillance, early diagnosis, treatment and follow-up in a multi-disciplinary specialized setting are recommended.

An ICET- A survey on Hypoparathyroidism in Patients with Thalassaemia Major and Intermedia: A preliminary report.

Hypoparathyroidism (HPT) is a rare disease with leading symptoms of hypocalcemia, associated with high serum phosphorus levels and absent or inappropriately low levels of parathyroid hormone (PTH). In patients with thalassemias it is mainly attributed to transfusional iron overload, and suboptimal iron chelation therapy. The main objectives of this survey were to provide data on the prevalence, demographic and clinical features of HPT in thalassemia major (TM) and intermedia (TI) patients living in different countries, and to assess its impact in clinical medical practice. A questionnaire was sent to all Thalassemia Centres participating to the International Network of Clinicians for Endocrinopathies in Thalassemia and Adolescence Medicine (ICET-A) Network.Seventeen centers, treating a total of 3023 TM and 739 TI patients, participated to the study. HPT was reported in 206 (6.8%) TM patients and 33 (4.4%) TI patients. In general, ages ranged from 10.5 to 57 years for the TM group and from 20 to 54 years for the TI group. Of the 206 TM patients and 33 TI patients with HPT, 117 (48.9%) had a serum ferritin level >2.500 ng/ml (54.3% TM and 15.1% TI patients) at the last observation. Hypocalcemia varied in its clinical presentation from an asymptomatic biochemical abnormality to a life-threatening condition, requiring hospitalization. Calcium and vitamin D metabolites are currently the cornerstone of therapy in HPT. In TM patients, HPT was preceded or followed by other endocrine and non-endocrine complications. Growth retardation and hypogonadism were the most common complications (53.3% and 67.4%, respectively). Although endocrine complications were more common in patients with TM, non-transfused or infrequently transfused patients with TI suffered a similar spectrum of complications but at a lower rate than their regularly transfused counterparts.In conclusion, although a large international registry would help to better define the prevalence, comorbidities and best treatment of HPT, through the result of this survey we hope to give a clearer understanding of the burden of this disease and its unmet needs. HPT requires lifelong therapy with vitamin D or metabolites and is often associated with complications and comorbidities.Therefore, it is important for endocrinologists and other physicians, who care for these patients, to be aware of recent advances of this disorder.

Paediatric brainstem: A comprehensive review of pathologies on MR imaging.

The brainstem is a midline structure formed by the midbrain, pons and medulla and is a home for various vital neurological centres of the human body. A diverse spectrum of disease entities can involve the brainstem, which includes infections, metabolic disorders, demyelination, vascular conditions, neurodegenerative disorders and tumours. Brainstem involvement can be primary or secondary, i.e., as part of systemic disorders. Due to the overlapping clinical presentation and symptomatology, imaging plays a decisive role in the detection, localisation and characterisation of brainstem pathologies. Magnetic resonance imaging (MRI) is the modality of choice and the use of advanced MR techniques such as diffusion-weighted imaging and spectroscopy can be especially helpful in providing a tenable diagnoses. This article is a compilation of the MR imaging manifestations of a spectrum of common and uncommon brainstem pathologies that can be encountered in the paediatric age group. Teaching Points • The paediatric brainstem can be afflicted by many pathologies that may overlap clinico-radiologically. • MRI is the best modality for the localisation and diagnosis of brainstem pathologies. • Diffusion-weighted imaging is useful in the diagnosis of vascular and metabolic disorders. • Occasionally, demyelination and neoplasms can be indistinguishable on imaging.

Hemiconvulsion-hemiplegia-epilepsy syndrome: clinical course and neuroradiological features in a 20-month-old girl.

Hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome involves initial sudden and prolonged unilateral convulsive seizures, followed by transient or permanent hemiplegia and epilepsy during infancy or early childhood. Seizures are prolonged, difficult to control and sometimes may require surgery. Hemiplegia varies in intensity, differs from Todd paralysis and disappears in about 20% of cases. Neuroimaging characteristically shows brain atrophy more pronounced on the hemisphere contralateral to the side of hemiplegia with dilation of the ventricular system. A 20-month-old girl presented with left hemiconvulsions and left hemiplegia lasting for a prolonged period. Seizures failed to resolve with various anticonvulsants even after many physician contacts. Characteristic neuroimaging findings, seizure control with carbamazepine and valproate, subsequent recovery of hemiplegia and attainment of developmental milestones observed on follow-up confirmed HHE syndrome. The case highlights the need for good seizure control in this syndrome.