In Pavone et al's study on hemimegalencephaly with epidermal nevus syndrome and in Battaglia et al's report, the disease was right-sided in 10 of 17 patients and in 6 of 10 patients, respectively. Federal agency databases offer a rough estimate of life expectancy based on gender, national averages and other factors. Targeted gene expression analysis in hemimegalencephaly: activation of beta-catenin signaling. . Hemimegalencephaly (HME) is an uncommon congenital malformation of the brain characterized by the overgrowth of one hemisphere. Neurology. Do not be redundant. Churchill Livingstone. Unable to load your collection due to an error, Unable to load your delegates due to an error. Until recently, families had few treatment options for this condition, all of which involved major brain surgery to remove the part of the brain causing the seizures. government site. The head of an infant affected by megalencephaly is abnormally large in the infants early years especially. Text Size:general jonathan krantz hoi4 remove general traits. david senak now. Copyright 2023 NORD National Organization for Rare Disorders, Inc. All rights reserved. The surgical procedure may involve "functional hemispherectomy" in which the nerves and tissue connecting one side of the brain to the other are severed, but the abnormal hemisphere remains within the skull. There are many different types of seizures associated with hemimegalencephaly. Genetics affects longevity but so does lifestyle; experts say it's never too late to make . BACKGROUND AND PURPOSE: Hemimegalencephaly is a rare but well-known congenital malformation with ipsilateral enlargement of the hemicerebrum. The Life Expectancy Calculator bases its calculations of your overall Life . To request acceptance into the Facebook group, you must request permission to join the group. Often, the corpus callosum is poorly formed or absent. These syndromes arise as a result of complex genetic activities such as single or multiple gene mutations. B, Coronal FLAIR image also shows asymmetry of both the left hemicerebrum and hemicerebellum. Enter multiple addresses on separate lines or separate them with commas. It causes severe seizures, which are often frequent and hard to control. and H.O., with 19 and 21 years of experience with MR imaging, respectively). Only 1 previous article presented an MR image of ipsilateral olfactory nerve enlargement, though no comment was made regarding this except in a figure legend.15 To our knowledge, ours is the first study to clearly describe the cranial nerve and vascular abnormalities in hemimegalencephaly. Epilepsy surgery in patients with malformations of cortical development. Taheri MR, Krauthamer A, Otjen J, Khanna PC, Ishak GE. Satoa N, Yagishitac A, Obad H, et al. Bethesda, MD 20894, Web Policies 10th ed. C, Coronal T2-weighted image reveals asymmetry of the olfactory nerves (arrow), as well, with the left one slightly larger than the right at the exit zone (arrowhead). Eds. Common neurological symptoms include: delayed development of your gross motor skills, including your ability to hold your head upright, change position, roll over, sit, and stand. Would you like email updates of new search results? In people with polymicrogyria, the brain develops too many folds, and the folds are unusually small. With high-quality brain MRIs, we are able to thoroughly evaluate the degree of brain malformation causing these seizures. To the best of our knowledge, no previous original manuscripts have focused on abnormalities outside the affected hemisphere in patients with hemimegalencephaly. Hemimegalencephaly in a patient with a neurocutaneous syndrome. What is the life expectancy for someone with epilepsy? In most cases, hemimegalencephaly will cause the child to have seizures. View CNBC interview with NORDs Peter Saltonstall and Boston Childrens Dr. Olaf Bodamer emphasizing the importance of investment in rare diseases. The .gov means its official. New York, NY; 2002:2996, 3016. The seizures usually do not decline in severity or number with medical treatment and in some cases they may exceed 50 or more per day. The CVS-D is an administrative survey that collects demographic and medical information from all provincial and territorial vital statistics registries on all deaths in Canada. Reductions in life expectancy are highest at the time of diagnosis and diminish with time. Papayannis CE, Consalvo D, Kauffman MA, Seifer G, Oddo S, D'Alessio L, Saidon P, Kochen S. Seizure. No asymmetry was noted in the trigeminal nerves. Hemimegalencephaly is a spectrum condition, meaning there is a wide range of functional outcomes that are poorly reported in research literature. Federal government websites often end in .gov or .mil. 4th ed. If your baby is having seizures despite taking medication, he or she should be referred as soon as possible. Asymmetric vascular dilations in the ipsilateral cerebral hemisphere were observed in 12 of the 30 patients (40%), in deep cerebral vessels in 11 patients (36.7%), and in superficial cerebral vessels in 8 patients (26.7%). Hemispherectomy is an extremely delicate and difficult brain surgery which should only be performed by an experience pediatric epilepsy surgeon. In addition, folia pattern was evaluated in the cerebellum. As might be expected, the cortex of the enlarged brain is malformed (dysplastic) and the white matter is abnormal. The International League Against Epilepsy has excellent resources for neurologists which should be reviewed here. Soufflet C, Bulteau C, Delalande O, et al. The CDC estimates life expectancy at birth in the U.S. decreased to 76.1 years in 2021, down 2.7 years from 78.8 years in 2019 and down 0.9 years from 2020. Sometimes, other resection surgeries may be recommended. There are a few case reports that have described cerebellar abnormalities.9,10 However, to our knowledge, no original manuscripts have been published focusing on abnormalities outside the involved hemisphere. NINDS Megalencephaly Information Page. Results were determined by consensus of the 2 readers. The name of this condition literally means too many (poly-) small (micro-) folds (-gyria . For the United States overall, life expectancy at birth was 77.0 years -- a decrease of 1.8 years from the life expectancy of 78.8 years in 2020. NORD and MedicAlert Foundation have teamed up on a new program to provide protection to rare disease patients in emergency situations. Some may be tube fed while others can eat a normal diet orally. 2005;15:204-11. For example, a person's life expectancy is affected by personal factors like family history, environment, diet, and even age and sex. Crino PB. No products in the cart. Neuropathology suggests a disorder of cellular lineage. 'Royal Free Hospital'. Many rare diseases have limited information. Patient organizations are available to help find a specialist, or advocacy and support for this specific disease. The Life Expectancy Calculator can determine your longevity based on details determined by your lifestyle. But it fell to 77 in 2020 and dropped further, to just over 76, in 2021. If we had used high-spatial-resolution sequences, such as 3D constructive interference in steady state (CISS), other smaller cranial nerves could have been examined.16,17 Furthermore, 3D CISS sequences can reveal not only the cranial nerves but also other fine structures existing in the subdural or subarachnoid spaces,18 and abnormal small vessels or fine membranes might have been detected in the ipsilateral subarachnoid space. The PubMed wordmark and PubMed logo are registered trademarks of the U.S. Department of Health and Human Services (HHS). Most are able to walk and talk, but not all. We retrospectively examined adult patients with HME by evaluating the presence of neurocutaneous disorders, current cognitive development, seizure control, and documentation of therapies for seizure management and outcomes. and transmitted securely. Seizures in association with HME often begin in early infant life including an association with infantile spasms. Grandparents, siblings, and others may join the group only with the permission of the parents of the child first. J Clin Ultrasound. It can include various types of cortical dysplasias such aspolymicrogyria,pachygyria , and other brain malformations. Hemimegalencephaly: cranial sonographic findings in neonates. Quincy, MA 02169 Sometimes, parents and healthcare providers notice that a baby has an enlarged head at birth or within the first few months of life. 1779 Massachusetts Avenue 2014 Sep;56(9):905-9. doi: 10.1111/dmcn.12390. This first-of-its-kind assistance program is designed for caregivers of a child or adult diagnosed with a rare disorder. The brain stem, cerebellum, and subdural and subarachnoid spaces were evaluated on both axial and coronal images. No asymmetry of the brain stem is noted. That paper reviews the clinical features of 19 patients with epilepsy that doesnt respond to treatment (intractable). The findings for this case are compatible with total hemimegalencephaly. Cytoarchitecture (how the neurons are stacked) is one type of deformity. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site. Change a child's life forever. But doctors at Childrens National Hospital have developed a successful alternative to major brain surgery for infants less than 3 months of age making precise, controlled strokes in your babys brain that mimics surgery to stop the seizures. delayed speech . Stopping seizures as soon as possible is imperative. Stay Informed With NORDs Email Newsletter, Launching Registries & Natural History Studies, https://rarediseases.org/patient-assistance-programs/medicalert-assistance-program/, https://rarediseases.org/patient-assistance-programs/rare-disease-educational-support/, https://rarediseases.org/patient-assistance-programs/caregiver-respite/, Learn more about Patient Assistance Programs >, https://rarediseases.org/non-member-patient/hemispherectomy-foundation/, The Brain Recovery Project: Childhood Epilepsy Surgery Foundation, https://rarediseases.org/non-member-patient/the-brain-recovery-project-childhood-epilepsy-surgery-foundation/, Learn more about Patient Organization & Membership >. Another limitation is that pathologic examination was not performed for abnormal structures occurring outside the involved hemisphere. Patient organizations can help patients and families connect. We detected various morphologic anomalies outside the involved hemisphere in an examination of the largest number of cases ever included in a study of hemimegalencephaly. Curr Probl Diagn Radiol. Some children may not have any seizures associated with hemimegalencephaly. Olfactory nerve enlargement and cerebral deep and superficial vascular dilations were often observed, though optic nerve enlargement was rare. Anyone from the U.S. can register with this free program funded by NIH. Families can contact us directly, or be referred by their doctor or hospital. Call us at (425) 485-6059. The first case was characterized in 1949 by W. S. Alexander, who described developmental delay, megalencephaly, vomiting, and continuous . This results from either increased proliferation or decreased apoptosis (or both) of developing neurons 2. Pediatr Radiol. Hemimegalencephaly is a rare but unique malformation characterized by enlargement of all or parts of a cerebral hemisphere. It is associated with seizures and sometimes developmental delay. The standard evaluation included detailed history and neurologic examinations, scalp electroencephalogram recording, technetium/Tc99m-L, L-ethyl cysteinate dimer (ECD) single-photon emission CT (SPECT), and MR imaging studies. Authors . Because this was a retrospective study based on routine MR images, only large cranial nerves (the olfactory, optic, and trigeminal), which were clearly observed on our routine MR imaging studies, were evaluated. A 7-month-old boy with left hemimegalencephaly. PMC While healthy life expectancy (HALE) has also increased by 8% from 58.3 in 2000 to 63.7, in 2019, this was due to declining mortality . A 4-month-old boy with right hemimegalencephaly. Your support helps to ensure everyones free access to NORDs rare disease reports. Any child with these skin markings and seizures should be further evaluated for HME as well as other brain malformations. J Child Neurol. Hemimegalencephaly is a rare malformation involving one side of the brain. control and psychomotor development in adulthood than patients in whom seizure onset occurred in the first year of life. 1 min read; Jun 05, 2022; Bagikan : parade of homes matterport . Luders H, Schuele SU. Your role and/or occupation, e.g. A dramatic fall in life expectancy. The nervous system is made up of the brain, spinal cord, and nerves. 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On physical examination, a child with HME may presents with enlarged head circumference or an asymmetrical head shape. Approximately 1 out of 50 children (2%) are said to have the characteristics of megalencephaly in the general population. Globally, life expectancy has increased by more than 6 years between 2000 and 2019 - from 66.8 years in 2000 to 73.4 years in 2019. Please note that NORD provides this information for the benefit of the rare disease community. Hemimegalencephaly is a rare malformation involving one side of the brain. B, Superficial cortical veins are asymmetrically dilated on the right (arrowheads). Surface Studio vs iMac - Which Should You Pick? 2006;19:169-74. Fetal MRI may be useful for confirmation of diagnosis in cases of suspected lobar holoprosencephaly. 1 in 100,000 births. Asymmetric vascular dilations in the ipsilateral cerebral hemisphere, compared with the contralateral hemisphere, were noted in 12 of the 30 patients (40%). An 8-month-old girl with right hemimegalencephaly. Sasaki M, Hashimoto T, Furushima W, et al. Our Information Specialists are available to you by phone or by filling out our contact form. Studies Health Management, Geriatric medicine, and Chronic disease management. All serial images obtained for each patient were reviewed at the same time. Most children with hemimegalencephaly have some level of intellectual disability. Hemimegalencephaly may also occur in association with Sotos syndrome and Alexander disease. A, Axial T2-weighted image shows an asymmetrically enlarged left hemicerebellum. It can be isolated or associated with several neurocutaneous syndromes; less frequently, it also involves the brain stem and cerebellum. Medline, Google Scholar; 7 Yagishita A, Arai N, Tamagawa K, Oda M. Hemimegalencephaly: signal changes suggesting abnormal myelination in MRI. Life expectancy at birth fell to 76.1 years, the lowest it has been in the US since 1996, and the biggest 2-year decline in a century. How many cases of Hemimegalencephaly are there? All MR images were evaluated by 2 neuroradiologists (N.S. A Podcast For The Rare Disease Community, Policy Statements & Letters to Policymakers. The cerebrospinal fluid accumulates in the skull and puts pressure on the brain tissue. The affected hemisphere may have focal or diffuse neuronal migration defects, with areas of polymicrogyria, pachygyria, and heterotopia.1-6 The etiology of this condition is unknown, though it is speculated that it involves abnormalities of neuronal differentiation and cell migration in a single hemisphere. Hemimegalencephaly is a rare hamartomatous malformation of the brain, remarkable for its extreme asymmetry. Insurance products are issued by: John Hancock Life Insurance Company (U.S.A.), Boston, MA 02116 (not licensed in New York) and John Hancock Life Insurance Company of New York, Valhalla, NY 10595. The enlarged hemisphere exhibits hamartomatous characteristics with dysplastic and disorganized cell arrangements and atypical cell morphology. Flores-Sarnat L, Sarnat HB, Dvila-Gutirrez G, Alvarez A.Hemimegalencephaly: part 2. Other times, the brain becomes unusually large within the child's early years. doi: 10.7759/cureus.10002. Hemimegalencephaly is a rare but unique malformation characterized by enlargement of all or parts of a cerebral hemisphere. Powered by NORD, the IAMRARE Registry Platform is driving transformative change in the study of rare disease. National Library of Medicine Check this site often for new trials that become available. Thank you for your interest in spreading the word on American Journal of Neuroradiology. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate. RESULTS: The ipsilateral olfactory and optic nerves were enlarged in 8 (26.7%) and 1 (3.3%) of the 30 patients, respectively, without enlargement on the contralateral side. Anencephaly is a serious birth defect in which a baby is born without parts of the brain and skull. Sequences included T1-weighted images (TR/TE, 300624/915 ms; FOV, 220 220 and 220 165; section thickness, 4- to 7-/0.5- to 1.7-mm gap; matrix, 256 224 and 256 256; NEX, 2), T2-weighted images (TR/TE, 40004200/95121 ms; FOV, 220 220 and 220 165; section thickness, 3-to 6-/0.5- to 1.7-mm gap; matrix, 256 224, 256 256, and 512 448; NEX, 2 or 3), fluid-attenuated inversion recovery (FLAIR) images (TR/TE/TI, 800010002/104158/22002500 ms; FOV, 220 220; section thickness, 5- to 6-/1- to 2.5-mm gap; matrix, 256 192, 256 256, and 512 432; NEX, 1), inversion-recovery images (TR/TE/TI, 40004210/3285/120150 ms; FOV, 220 220 and 220 165; section thickness, 3- to 4-/0.3- to 2-mm gap; matrix, 256 256 and 512 432; NEX, 2 or 3), and 3D high-resolution sagittal T1-weighted fast low-angle shot (gradient-echo images) (TR/TE/TI, 1970/3.9/110 ms; flip angle, 15; FOV, 315 315; effective section thickness, 1.2 mm; slab thickness, 177 mm; 3D partitions, 144 sections; matrix 512 228; NEX, 1). SDMX. hemimegalencephaly life expectancy Abstract. If you would like to learn more about our innovative approach to treating hemimegalencephaly, email us or call our Neonatal Neurology and Neonatal Neurocritical Care Program at 202-476-2120. Stay Informed With NORDs Email Newsletter, Launching Registries & Natural History Studies. Megalencephaly (or macrencephaly; abbreviated MEG) is a growth development disorder in which the brain is abnormally large. Again, it is imperative that infantile spasms are stopped as soon as possible. A surgery called a hemispherectomy is often required to control the . The Social Security Administration maintains a life expectancy calculator that will tell you the average number of additional years a person with your date of . Interpretation: This disorder affects more males than females. heritage commons university of utah. Your organization or institution (if applicable), e.g. Reference: Data from the Newborn Screening Codingand Terminology Guide is available here. Epilepsy surgery for hemispheric syndromes in infants: hemimegalencepahly and hemispheric cortical dysplasia. 2005;33:243-47. Suite 500 The Canadian Vital Statistics Death (CVS-D) database is the authoritative source for cause of death data in Canada. Functional outcomes are closely tied to seizure control and whether the brain malformation is present on both sides of the brain. J Child Neurol. We, therefore, retrospectively reviewed 30 patients with hemimegalencephaly, which, to our knowledge, is the largest number of patients included in any study of hemimegalencephaly, to evaluate structures outside the involved hemisphere on both the ipsilateral and contralateral sides, including the cranial nerves, blood vessels, subdural and subarachnoid spaces, brain stem, and cerebellum. Molecular pathogenesis of focal cortical dysplasia and hemimegalencephaly. Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases. This condition is caused by a change in the genetic material (DNA). Seizures in association with HME often begin in early infant life including an association with infantile spasms. NORD is not a medical provider or health care facility and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. It is extremely important that the childs neurologist is proactive in ensuring that the child has no seizures. The aim of this study was to examine and compare neurological findings in adult patients with HME. Read about your rights and how we protect your data. Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. Hemicerebellar hypertrophy was observed in nearly half of the patients, and a small number of patients exhibited brain stem asymmetry. Copyright 2014 by AAN Enterprises, Inc. Submissions must be < 200 words with < 5 references. Dr. Lozano has received personal compensation in an editorial capacity for Brain Stimulation. 2012 Jan-Feb;41(1):11-9. doi: 10.1067/j.cpradiol.2011.06.003. A and B, Coronal T2-weighted images demonstrate abnormal folia in both ipsilateral and contralateral cerebellar hemispheres. This condition has rarely been reported in adults. Sometimes these malformations may take years to find because magnetic resonance imaging (MRI) is unable to detect the malformation untilthe child is older. Hemimegalencephaly is caused by a spontaneous mutation which occurs on the mTORpathway at approximately the third week of gestation. Persistent, intractable seizures are seldom brought under control by means of anti-epileptic medications. Bella has celebrated two years seizure-free after receiving an innovative treatment pioneered by doctors at Children's National Hospital for the rare brain condition hemimegalencephaly. The life expectancy of CML patients of all ages diagnosed in 2010 was within 3 years of the life expectancy of the general population, as shown in the LEL estimates (Table 2; Fig 2). Flores-Sarnat L. Hemimegalencephaly: part 1. This brain malformation occurs usually as a spontaneous problem very early in brain development (the condition is not inherited). Head enlargement may be evident at birth or the head may become larger in the early years of life. Hemimegalencephaly is an extremely rare condition where one half of the brain's cerebral cortex is larger than the other. Design Thus, when detected, HME should prompt a search for other syndromic diagnoses. Nervous system diseases are usually diagnosed and treated by neurologists. ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. This question is for testing whether or not you are a human visitor and to prevent automated spam submissions. 2023 by the American Society of Neuroradiology | Print ISSN: 0195-6108 Online ISSN: 1936-959X. Jun 21, 2022. For children less than 3 months of age who have seizures that do not stop with seizure medications, this procedure can be possible. There were a total of 30 patients (19 men and 11 women) identified by medical records. [10095][10097] The cause of hemimegalencephaly is not fully understood, but involves a disturbance of cells early in development and likely involves genes involved in patterning and symmetry. If you are uploading a letter concerning an article: Evolution of epilepsy in hemimegalencephaly from infancy to adulthood: Case report and review of the literature. HME may also be associated with various neurocutaneous syndromes. [10095] Children with this disorder may have . Healthy volunteers may also participate to help others and to contribute to moving science forward. Epileptic spasms (formerly known as infantile spasms) is a particularly catastrophic form of childhood epilepsy, can often occur with hemimegalencephaly. His latest book concerns the scientific and governmental innovations that doubled human life expectancy in the last 100 years. A 6-month-old boy with right hemimegalencephaly. Women are expected to live about 85.6 years and men are expected to live about 81.9 years. Megalencephaly (MEG) is a disorder characterized by an abnormally large brain. Children with this disorder may have a large, asymmetrical head accompanied by seizures, partial paralysis, often associated with cognitive or behavioral disabilities. One neurocutaneous syndrome is Hypomelanosis of Ito (HI). The cause of Hemimegalencephaly is not fully understood, but involves a disturbance of cells early in development and likely involves genes involved in patterning and symmetry. Each examination included 49 sequences. 2002 May;17(5):373-84; discussion 384. Most patients undergo surgery to separate one hemisphere of the brain from the other. hemimegalencephaly life expectancy. Hemimegalencephaly is a rare congenital disorder of cortical formation with hamartomatous overgrowth of all or part of a cerebral hemisphere. Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care. Phone: 202-588-5700. Find resources for patients and caregivers that address the challenges of living with a rare disease, Learn more about the different types of clinical studies, ResearchMatch helps connect people interested in research studies, UMLSVocabulary Standards and Mappings Downloads, Access aggregated data from Orphanet at Orphadata, National Center for Biotechnology Information's, Newborn Screening Coding and Terminology Guide, Improving newborn screening laboratory test ordering and result reporting using health information exchange, Health Literacy Online: A Guide for Simplifying the User Experience, U.S. Department of Health & Human Services, National Center for Advancing Translation Sciences, Ways to connect to others and share personal stories, Up-to-date treatment and research information, Lists of specialistsor specialty centers. When these signs are present, the neurologist may suspect the presence of HME and order magnetic resonance imaging (MRI) examination. MLINY101121760-1 CONCLUSIONS: In . 2004;45:1375-82. B, Coronal T1-weighted image reveals findings similar to those in A (arrow). Tammy Tsuchida Neurophysiologist Neonatal Neurologist, Monica Pearl Director, Neurointerventional Radiology ProgramRadiologist. Many other factors related to longevity have not been considered. Hemimegalencephaly (HME) is a rare congenital malformation of the brain characterized by overgrowth of one hemisphere. If the affected side is surgically removed (anatomic hemispherectomy) or disconnected from the other brain structures (functional hemispherectomy), the remaining side of the brain may gradually take over the functions normally performed by the affected side. The UCLA Hemimegalencephaly Program. Phone: 617-249-7300, Danbury, CT office We collaborate to provide the best possible care to babies with hemimegalencephaly. Specchio N, Kahane P, Pasquier B, Tassi L, Guerrini R. Resective surgery for epileptogenic dysembryoplastic neuroepithelial tumor in hemimegalencephaly. 2005;20:337-41. The prognosis for children with hemimegalencephaly is poor. By continuing to use this website, you agree to the Terms of Service & Privacy Policy. Historical note and terminology.

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