Why Craniofacial Surgeons/Researchers Need to be Aware of Native American Myopathy?

Congenital myopathy type 13 (CMYO13), also known as Native American myopathy, is a rare muscle disease characterized by early-onset hypotonia, muscle weakness, delayed motor milestones, and susceptibility to malignant hyperthermia. The phenotypic spectrum of congenital myopathy type 13 is expanding, with milder forms reported in non-native American patients. The first description of the disease dates to 1987 when Bailey and Bloch described an infant belonging to a Native American tribe with cleft palate, micrognathia, arthrogryposis, and general-anesthesia-induced malignant hyperthermia reaction; the cause of the latter remains poorly defined in this rare disease. The pan-ethnic distribution, as well as its predisposition to malignant hyperthermia, makes the identification of CMYO13 essential to avoid life-threatening, anesthesia-related complications. In this article, we are going to review the clinical phenotype of this disease and the pathophysiology of this rare disease with a focus on two unique features of the disease, namely cleft palate and malignant hyperthermia. We also highlight the importance of recognizing this disease's expanding phenotypic spectrum-including its susceptibility to malignant hyperthermia-and providing appropriate care to affected individuals and families.

STAC3-related myopathy: A Report of a Cohort of Seven Saudi Arabian Patients.

AIM: The study aims to review all the genetically confirmed STAC3-related myopathy being followed in a single center in the Eastern Province of Saudi Arabia. METHODOLOGY: A retrospective review of all genetically confirmed STAC3-related myopathy followed in our clinic has been conducted. RESULTS: 7 patients with STAC3-related myopathy have been found in our cohort, with all the patients presenting with infantile hypotonia, myopathic facies, and muscle weakness in the first year of life. Feeding difficulties and failure to thrive were found in all patients except one who died during the neonatal period. Respiratory muscle involvement was also found in 5 out of 6 formally tested patients while cleft palate was found in 5 patients. CONCLUSION: STAC3-related myopathy is a relatively rare, malignant hyperthermia (MH)--causing muscle disease described in specific, highly consanguineous populations. Making the diagnosis in myopathic patients with cleft palate preoperatively can prevent MH-induced, anesthesia-related perioperative complications.

Identifying Clinical and Genetic Characteristics of Spinal Muscular Atrophy Patients and Families in Saudi Arabia.

INTRODUCTION:  Spinal muscular atrophy (SMA) is an inherited, neuromuscular disease characterized by the deterioration of spinal motor neurons, causing progressive muscular atrophy and weakening. It is an autosomal recessive disease with the mutation of the survival motor neuron 1 (SMN1) gene as a hallmark. Evidence suggests that the SMN2 gene modulates the severity of the disease. SMA is classified based on the maximum motor function achieved. This study aims to describe the genetic makeup and characteristics of an SMA cohort in the Kingdom of Saudi Arabia (KSA). METHODS:  Data from families presenting with SMA children was collected between January 2018 and December 2020. Blood samples were collected from patients and family members. Genetic testing for SMA and mutations was performed at a European central lab. RESULTS AND DISCUSSION:  Seventeen families were enrolled in the study, including 52 children. Among 34 parents, 28 were carriers with heterozygous deletion (82.3%), one (2.9%) had no deletion detected by multiplex ligation-dependent probe amplification (MLPA) but had point mutation by sequencing, one (2.9%) had homozygous deletion and was symptomatic, three (8.8%) had no deletion or point mutation and were presumed to have 2+0, and one (2.9%) was not tested. CONCLUSION:  This study provides insight into the carrier mutational analysis of families with SMA disease manifestations in KSA. Further studies are needed to understand the burden and impact of SMA among the Saudi population.

Fecal incontinence as the sole presentation of focal epilepsy; a case report.

Focal epilepsy is a surge in brain activity arising from a localised area of the cerebral cortex; it can be sub-classified in different categories including motor, sensory, autonomic and cognitive subtypes. A clinical case report of a 11-year-old girl was diagnosed with frequent fecal incontinence four or more times daily for more than two months. An electroencephalogram (EEG) study suggested a prominent interictal spike and sharp wave discharge on the left hemisphere, mainly at the frontotemporal region without loss of consciousness or even speech disruption. This could be due to the normal EEG study of the dominant hemisphere. A magnetic resonance imaging study was done to exclude space-occupying lesions or focal lesions of the left hemisphere of the brain. An impression was made with abnormal EEG showing focal epileptiform activity as a final diagnosis. The patient was treated with Leviteracetam anti-epileptic drug 250 mg twice daily with significant clinical improvement at a 3-month follow-up.

Maternal and neonatal outcomes in adolescent pregnant women with one prior Cesarean section in Baghdad

Objective: Repeat adolescent pregnancy is a hot topic worldwide and imposes a challenge on the health system, especially when faced with limited resources. We aimed to assess maternal and neonatal outcomes in adolescent pregnant women with one prior cesarean section (CS). Material and Methods: Singleton adolescent pregnant women with one prior CS scar were recruited and divided into two groups based on the obstetric decision for delivery and/or mother's wish, either trial of labor (TL) or elective cesarean section (ECS). If TL failed, an emergency CS was performed. Results: Out of the total 109 involved women, TL and ECS groups included 78 (71.6%) and 31 (28.4%) women, respectively. Emergency CS was done for 57 (52.3%) women from the TL group, leaving only 21 (19.3%) women with successful TL who had statistically significant (non-recurrent) indications of the prior CS [12 (57.1%)]. Malpresentation (n=24; 77.4%) was the major indication in the ECS group, while fetal distress (n=29; 50.9%) was the main cause of failed TL. Total maternal morbidities in the TL group were significantly higher for adjusted [1.5 (1.1-4.2)] and non-adjusted odds ratios (OR) [2.4 (1.6-5.6)]. Neonatal complications, such as admission to neonatal intensive care unit, were higher in the TL group without reaching significance. However, the adjusted OR [1.9 (1.1-3.3)] for perinatal asphyxia was significantly increased in TL group. Conclusion: Maternal morbidities and perinatal asphyxia were significantly higher in the TL group of adolescent women compared with the ECS group in this study.

Obstetric and neonatal complications in large for gestational age pregnancy with late gestational diabetes

Objective: Gestational diabetes (GDM) is increasing in prevalence with effects starting in-utero, leading to excessive fetal growth. It is the leading cause of many perinatal complications. The aim was to determine the rate of obstetric and neonatal complications in pregnant women with high fetal weight and a recent diagnosis of GDM during the third trimester, despite normal earlier glycemic control. Material and Methods: Prospective cohort study over four years involving pregnant women regularly visiting a single center who had normal glycemic index at 24-28 gestational weeks and ultrasonography (US) suggested high fetal weight during the third trimester. Oral glucose tolerance test was given, dividing the sample into the late GDM (LGDM) and the non-LGDM group. Results: Of 176 women, 24 (13.64%) had LGDM, and 152 (86.36%) had non-LGDM. After exclusions these groups' sizes were (n=21) in LGDM and (n=132) in non-LGDM. Hemoglobin A1c level was significantly higher in LGDM than non-LGDM (5.9% versus 5.1%). However, obstetric and neonatal complications were largely comparable (p≥0.05) but higher in LGDM than non-LGDM women. Exceptions to this were birth weight (3219 g versus 3326 g), large for gestational age at delivery (85.72% versus 88.64%), and gestational age at delivery (37.9 versus 38.2 weeks) in the LGDM vs. non-LGDM groups, respectively. There was a significantly higher cesarean section (CS) rate (76.19% versus 51.52%; p<0.05) in the LGDM group. Conclusion: The rate of newly diagnosed LGDM in pregnant women with high fetal weight during the third trimester by US was 13.64%. They had comparable obstetric and neonatal complications with non-GDM women, except for the rate of CS that was significantly higher in LGDM women.

Treatment options of Adolescent Gestational Diabetes: Effect on Outcome.

OBJECTIVES: Teenage pregnancy with gestational diabetes mellitus (GDM) offers a real challenge to the health system and needs a special care. We aimed to evaluate possible obstetrical and neonatal adverse events of different treatment protocols in adolescent GDM including lifestyle, metformin (MTF), and insulin. METHODS: All teen pregnant women ≤ 19 years old visiting Baghdad Teaching Hospital throughout four years (from June 1, 2016 till May 31, 2020) diagnosed with GDM were included in this cohort study and followed-up closely throughout pregnancy and after delivery. Included adolescents were put on lifestyle alone during the first week of presentation. Adolescents who reached target glucose measurements were categorized into lifestyle group, while other adolescents were randomly allocated into MTF and insulin groups. Also, adolescent pregnant women without GDM were recruited as control group using computer randomization. RESULTS: The GDM (110 cases) and control (121 individuals) groups had matched general features at recruitment except for diabetes family history. Also, GDM treatment groups had matched features. Glycemic readings (fasting and random) was significantly (p< 0.05) higher in insulin group having odds ratio (OR) of 1.41, and 1.57, respectively. In MTF group, significant protective OR was found in preeclampsia (OR=0.76, p< 0.05). MTF showed non-significant protective OR regarding prematurity and five minutes Apgar score>7 [(OR=0.83, p=0.24), and (OR=0.94, p=0.73), respectively], and significant protective association with large for gestational age and admission to neonatal intensive unit. Insulin had significantly higher prematurity, small for gestational age, and hypoglycemia [OR=1.89, 2.53, and 2.84, respectively]. CONCLUSION: Metformin (MTF) showed less pregnancy and neonatal complications in adolescent GDM than insulin and lifestyle.

Rare gastric neoplasm: Malignant glomus tumor of the stomach. A case report.

INTRODUCTION: Glomus tumors are rare neoplasms that aris-e from neuromyoarterial canal or glomus body. They are mainly found in the peripheral soft tissue, extremities and rarely developed inside the gastrointestinal tract. In the gastrointestinal tract, the stomach is the most common site for the development of glomus tumors, and most often found in the antrum. Usually, the symptoms of gastric glomus tumors are non specific i.e (abdominal pain, GI bleeding and/or perforation) and possibly discovered incidentally during upper GI endoscopy. CASE PRESENTATION: This is a-56-year-old-male, presented to the emergency department with upper GI bleeding i.e (melena), and signs of shock (HR: 110; BP:80/60), Blood tests showed Hemoglobin level: 5 g/dl. Resuscitation was started with IV fluid and transfusion of 4 units of PRBCs. After resuscitation, He gave a 10 days history of passing black tarry stool, palpitation, headache, dizziness, easily fatigability, malaise, and colicky epigastric abdominal pain. His abdomen was soft, lax with no tenderness, there was fullness at the left upper quadrant. Upper GI endoscopy was performed that showed a large gastric ulcer with adherent clots, necrotic base and oozing at the proximal part of the greater curvature, after that the bleeding was managed with a heater probe and epinephrine injections. The histopathological examination of the biopsy revealed a spindle and epithelioid tumor with the top differential diagnosis being GIST, however other submucosal lesions cannot be excluded. After that, He underwent exploratory laparotomy and wedge resection of the tumor. The final histopathology showed a malignant glomus tumor. CLINICAL DISCUSSION: Due to overlapping clinical and radiological features between glomus, GIST and other submucosal lesions, the histopathological examination is considered to be the gold standard for the diagnosis. Surgical resection with negative margin is the treatment of choice for gastric glomus tumors. CONCLUSION: Although gastric glomus tumor is a rare entity and accounts for 1% of all gastric mesenchymal tumors, it should be considered in the differential diagnosis, since preoperative biopsy is difficult and overlapping features with other submucosal lesions. Surgical treatment is the preferred option for gastric glomus tumor and long-term follow-up is required due to high metastatic and recurrence rate in the malignant type.

Differences in perinatal outcomes in teenage mothers with their first and third pregnancies and predictors of adverse neonatal events: A cross-sectional study.

BACKGROUND: Repeated teenage pregnancy is a major burden on the healthcare system worldwide. OBJECTIVE: We aimed to compare teenagers with their first and third pregnancies and to evaluate the likelihood of neonatal complications. MATERIALS AND METHODS: This cross-sectional study was performed on female teenagers (aged ≤ 19 yr) with singleton pregnancies. The subjects (n = 298) were screened over 12 months. Ninety-six women were excluded, based on the exclusion criteria. The remaining subjects (n = 202) were divided into two groups: teenagers with first pregnancy (n = 96) and teenagers with third pregnancy (n = 47). The subjects were observed throughout pregnancy and delivery. The final sample size of the first and third pregnancy groups was 96 and 47, respectively. RESULTS: There was a significant risk of preeclampsia in the first pregnancy group (p = 0.01). Low birth weight, five-min Apgar score < 7, and neonatal intensive care unit admission were the most significant neonatal outcomes in the first pregnancy group. In the third pregnancy group, significant predictors of neonatal complications included very young age in the first pregnancy ( ≤ 15 yr), an inter-pregnancy interval < 2 yr, current anemia, and history of obstetric and/or neonatal complications in previous pregnancies. CONCLUSION: Based on the results, teenagers with their first pregnancy had comparable obstetric outcomes (except for preeclampsia) as teenagers with their third pregnancy, whereas neonatal complications occurred more frequently in the first pregnancy group. Overall, we can predict high-risk neonates in the third pregnancy, based on the abovementioned parameters.

Effects of excessive tea consumption on pregnancy weight gain and neonatal birth weight

Objective@#Tea lovers are increasing worldwide. We hope that this report is the first to discuss the possible impacts of high black tea consumption on gestational weight gain (GWG) and birth parameters. @*Methods@#Throughout one year, a total of 7,063 pregnant ladies coming for first antenatal visit were screened in a major tertiary center. Of them, 1,138 were involved and divided according to their preference into 3 groups: excessive tea (ET), usual tea (UT), and mixed beverages group. The study included women who gave birth to healthy neonates. @*Results@#The rate of ET consumption was 4.13% with a total of 41 cases. The UT group (controls) comprised 94 women. ET was significantly associated (P<0.05) with maternal age, parity, occupation, smoking, and poor GWG starting from 30 weeks’ gestation until delivery, low birth weight, and small for gestational age (SGA). Poor GWG had a higher relative risk (with 95% confidence interval) in the ET group than in the UT group in crude (1.84 [0.85–2.43]) and risk adjusted models (1.25 [0.28–2.26]). Further, similar results were obtained for SGA in the crude and 3 adjusted models, where the first model was adjusted for bio-obstetrical variables, the second for social parameters, and the third for all factors included in the previous models (1.53 [0.62–2.81], 1.52 [0.71–2.50], and 1.46 [0.78–2.39]), respectively. @*Conclusion@#Consumption of large amounts of daily black tea during pregnancy (≥1,500 mL) is a significant cause of poor GWG and SGA.

Effects of excessive tea consumption on pregnancy weight gain and neonatal birth weight.

OBJECTIVE: Tea lovers are increasing worldwide. We hope that this report is the first to discuss the possible impacts of high black tea consumption on gestational weight gain (GWG) and birth parameters. METHODS: Throughout one year, a total of 7,063 pregnant ladies coming for first antenatal visit were screened in a major tertiary center. Of them, 1,138 were involved and divided according to their preference into 3 groups: excessive tea (ET), usual tea (UT), and mixed beverages group. The study included women who gave birth to healthy neonates. RESULTS: The rate of ET consumption was 4.13% with a total of 41 cases. The UT group (controls) comprised 94 women. ET was significantly associated (P<0.05) with maternal age, parity, occupation, smoking, and poor GWG starting from 30 weeks' gestation until delivery, low birth weight, and small for gestational age (SGA). Poor GWG had a higher relative risk (with 95% confidence interval) in the ET group than in the UT group in crude (1.84 [0.85-2.43]) and risk adjusted models (1.25 [0.28-2.26]). Further, similar results were obtained for SGA in the crude and 3 adjusted models, where the first model was adjusted for bio-obstetrical variables, the second for social parameters, and the third for all factors included in the previous models (1.53 [0.62-2.81], 1.52 [0.71-2.50], and 1.46 [0.78-2.39]), respectively. CONCLUSION: Consumption of large amounts of daily black tea during pregnancy (≥1,500 mL) is a significant cause of poor GWG and SGA.

Cerebral Small Vessel Disease, Risk Factors, and Cognition in Tenants of Precarious Housing.

BACKGROUND AND PURPOSE: We aim to describe the burden, characteristics, and cognitive associations of cerebral small vessel disease in a Canadian sample living with multimorbidity in precarious housing. METHODS: Participants received T1, T2-fluid-attenuated inversion recovery, and susceptibility-weighted imaging 3T magnetic resonance imaging sequences and comprehensive clinical, laboratory, and cognitive assessments. Cerebral small vessel disease burden was characterized using a modified Small Vessel Disease (mSVD) score. One point each was given for moderate-severe white matter hyperintensities, ≥1 cerebral microbleeds, and ≥1 lacune. Multivariable regression explored associations between mSVD score, risk factors, and cognitive performance. RESULTS: Median age of the 228 participants (77% male) was 44.7 years (range, 23.3-63.2). In n=188 participants with consistent good quality magnetic resonance imaging sequences, mSVD scores were 0 (n=127, 68%), 1 (n=50, 27%), and 2 (n=11, 6%). Overall, one-third had an mSVD ≥1 n=61 (32%); this proportion was unchanged when adding participants with missing sequences n=72/228 (32%). The most prevalent feature was white matter hyperintensities 53/218 (24%) then cerebral microbleed 16/191 (8%) and lacunes 16/228 (7%). Older age (odds ratio, 1.10 [95% CI, 1.05-1.15], P<0.001), higher diastolic blood pressure (odds ratio, 1.05 [95% CI, 1.01-1.09], P=0.008), and a history of injection drug use (odds ratio, 3.13 [95% CI, 1.07-9.16], P=0.037) had significant independent associations with a mSVD score of ≥1 in multivariable analysis. mSVD ≥1 was associated with lower performance on tests of verbal memory, sustained attention, and decision-making, contributing 4% to 5% of the variance in each cognitive domain. CONCLUSIONS: The 32% prevalence of cerebral small vessel disease in this young, socially marginalized cohort was higher than expected for age and was associated with poorer cognitive performance.

Green tea influence on iron overload in thalassemia intermedia patients: a randomized controlled trial.

Background: Although iron chelation therapies have been available for many years for thalassemia intermedia patients, iron accumulation remains the major cause of death. Therefore, the need for additional chelation options is in demand. This randomized controlled study aimed to understand the effects of green tea on iron balance in thalassemia intermedia patients. Methods: Using a random selection method, 141 thalassemia intermedia patients were initially screened for inclusion in this trial; only 68 patients included after applying exclusion criteria. Two equal groups were generated (n=34/group): green tea (three cups/day after meals) + usual treatment (deferasirox iron chelator and on demand blood transfusion); and control (only usual treatment). The study lasted for a period of 12 months. Patients failing to comply to the trial methodology were excluded, leaving a final total of 29 patients in the green tea group and 28 patients in the control group. Liver iron concentration, and serum ferritin were assessed at baseline and 12 months, while hemoglobin levels were assessed monthly. Results: At baseline, both groups were matched regarding general demographics. At 12 months, the net drop of liver iron concentration in the green tea group (7.3 mg Fe/g dry weight) was significantly higher than the control group (4.6 mg Fe/g dry weight) (p<0.05). This was also seen with serum ferritin; net reduction in green tea and control groups were 1289 ng/ml and 871 ng/ml, respectively (p<0.05). Hemoglobin levels were slightly higher in the green tea group compared with the control group, but this was not significant. Conclusions: Regular green tea consumption had a significant capability to improve iron deposition in thalassemia intermedia patients who already undergo deferesirox iron chelation therapy. Trial registration: UMIN-CTR Clinical Trials Registry, UMIN000040841 (retrospectively registered June 21, 2020).

Deferasirox in thalassemia: a comparative study between an innovator drug and its copy among a sample of Iraqi patients.

BACKGROUND: The health care industry is witnessing an increasing trend in the use of generic medicines because of their presumed low cost compared with innovator medicines. The aim of this study was to determine and compare the performance of the copy drug Osveral® and its innovator drug deferasirox (Exjade®). METHODS: A prospective observational study including 223 patients receiving the branded medicine Exjade® and 101 patients receiving the copy Osveral® was carried out. Data were assessed for a 1-year period and included clinical symptoms, serum ferritin (SF), serum creatinine (SC), and alanine aminotransferase (ALT). Data were analyzed with SPSS version 22 software (SPSS, Chicago, IL, USA). RESULTS: The median age of the sample was 8 years. There was no significant difference in gender distribution between the two groups (p = 0.625). Nausea was the most frequently reported adverse effect followed by diarrhea and abdominal pain in both groups. Patients receiving Exjade® had a higher relative reduction of SF at the end of the study compared with the Osveral® group (19.9% versus 9.93%, p = 0.028). SC was found to be significantly higher in the Osveral® group than in the Exjade® group throughout the study period. The mean platelet count was higher in the Exjade® group. ALT was significantly higher among patients receiving Osveral® over the last three months of the study. CONCLUSIONS: Exjade® showed a better ability to reduce SF, with less liver toxicity, and better hemostasis profile. No congenital anomalies associated with short-term use of both drugs during pregnancy were observed or reported.

Endoscopic removal of an incidentally discovered intrauterine contraceptive device eroding into the rectum.

Intrauterine contraceptive device (IUCD) is a common birth control method. It is safe but can be associated with serious complications including migration into the peritoneal cavity and penetration into other intra-abdominal and pelvic viscera; most commonly the rectosigmoid colon. Different retrieval methods including endoscopy, laparoscopy or open abdominal surgery have been described. We report the case of 38-year-old woman who became pregnant shortly after insertion of the IUCD 6 years prior to presentation. She delivered vaginally and 'expulsion' of the device was assumed. Some 4 years later, she had another IUCD inserted and remained asymptomatic till she recently presented with iron-deficiency anaemia. As part of the investigation, diagnostic colonoscopy was performed. Surprisingly, the old IUCD was found penetrating into the midrectum. Uneventful endoscopic removal was performed and she remained well at 3-month follow-up. Migrating IUCD remains asymptomatic and may be discovered accidentally during routine investigation for some other symptoms.

High diagnostic yield and novel variants in very late-onset spasticity.

Hereditary spastic paraplegias (HSPs) are a diverse group of genetic conditions with variable severity and onset age. From a neurogenetic clinic, we identified 14 patients with very late-onset HSP, with symptoms starting after the age of 35. In this cohort, sequencing of known genetic causes was performed using clinically available HSP sequencing panels. We identified 4 patients with mutations in SPG7 and 3 patients with SPAST mutations, representing 50% of the cohort and indicating a very high diagnostic yield. In the SPG7 group, we identified novel variants in two patients. We have also identified two novel mutations in the SPAST group. We present sequencing data from cDNA and RT-qPCR to support the pathogenicity of these variants, and provide observations regarding the poor genotype-phenotype correlation in these conditions that should be the subject of future study.

Neonatal Seizures in Iraq: Cause and Outcome.

During a daily neonatology practice, seizures are a continuous challenge as a common neurological disease with a wide range of underlying etiologies, and considerable risks of morbidity and mortality. This study aimed to clarify the rate, etiological factors and outcomes of neonatal seizures, and a possible foresight of neonatal death in Iraq. A prospective cohort study was conducted in neonates with seizures admitted to 3 major neonatology centers in Baghdad, Iraq, from 1st of December 2017 till the end of May 2018. Both term and preterm neonates affected by seizures were recruited with a total number of 203 patients. Perinatal asphyxia (n = 81; 39.90%), infection (n = 77; 37.93%), and metabolic abnormalities (n = 52; 25.62%) were most common causes for seizures. Death occurred in 66 neonates (32.51%), with higher mortality rates found in preterm neonates. Six adverse prognostic indicators were shown to be significant: positive pressure resuscitation, mechanical ventilation, perinatal asphyxia, infection, gestational age (preterm babies), and low birth weight (< 2,500 g). Neonatal seizures may be the first manifestation of neurological insults, and they are most commonly caused by perinatal asphyxia, followed by infection, and metabolic disturbances. Prevention of neonatal seizures is much more important than the treatment of them for the reduction of neonatal mortality. The effective strategies should therefore be proper medical care and management for mothers and neonates before, during and after delivery to prevent neonatal infections, perinatal asphyxia, low birth weight, prematurity, metabolic abnormalities, and other risk factors of neonatal seizures.

Relationship between liver iron concentration determined by R2-MRI, serum ferritin, and liver enzymes in patients with thalassemia intermedia.

BACKGROUND: Iron overload is a risk factor affecting all patients with thalassemia intermedia (TI). We aimed to determine whether there is a relationship of serum ferritin (SF) and alanine aminotransferase (ALT) with liver iron concentration (LIC) determined by R2 magnetic resonance imaging (R2-MRI), to estimate the most relevant degree of iron overload and best time to chelate in patients with TI. METHODS: In this cross-sectional study, 119 patients with TI (mean age years) were randomly selected and compared with 120 patients who had a diagnosis of thalassemia major (TM). Correlations of LIC, as determined by R2-MRI, with SF and ALT levels, were assessed in all participants. A P-value <0.05 was considered statistically significant. RESULTS: SF and LIC levels were lower in patients with TI than in those with TM; only ferritin values were significant. We found a statistically significant relationship between SF and LIC, with cut-off estimates of SF in patients with TI who had splenectomy and those who entered puberty spontaneously (916 and 940 ng/mL, respectively) with LIC >5 mg Fe/g dry weight (P<0.0001). A significant relationship was also found for patients with TI who had elevated ALT level (63.5 U/L), of 3.15 times the upper normal laboratory limit, using a cut-off for LIC ≥5 mg Fe/g dry weight. CONCLUSION: We determined the cut-off values for ALT and SF indicating the best time to start iron chelation therapy in patients with TI, and found significant correlations among iron overload, SF, and ALT.

Infantile Epileptic Encephalopathy With Multiple Genetic Mutations: How Important are Variants of Undetermined Significance?

The importance of so called variants of undetermined significance in the development of Infantile Epileptic Encephalopathy is discussed and an illustrative case is presented.