The First Report of Iranian Registry of Patients with Spinal Muscular Atrophy.

BACKGROUND: Insufficient amounts of survival motor neuron protein is leading to one of the most disabling neuromuscular diseases, spinal muscular atrophy (SMA). Before the current study, the detailed characteristics of Iranian patients with SMA had not been determined. OBJECTIVE: To describe the key demographic, clinical, and genetic characteristics of patients with SMA registered in the Iranian Registry of SMA (IRSMA). METHODS: IRSMA has been established since 2018, and the demographic, clinical, and genetic characteristics of patients with SMA were recorded according to the methods of treat neuromuscular disease (TREAT-NMD) project. RESULTS: By October 1, 2022, 781 patients with 5q SMA were registered. Of them, 164 patients died, the majority of them had SMA type 1 and died during the first 20 months of life. The median survival of patients with type 1 SMA was 23 months. The consanguinity rate in 617 alive patients was 52.4%, while merely 24.8% of them had a positive family history. The most common type of SMA in live patients was type 3. Morbidities were defined as having scoliosis (44.1%), wheelchair dependency (36.8%), tube feeding (8.1%), and requiring mechanical ventilation (9.9%). Most of the registered patients had a homozygous deletion of SMN1, while the frequency of patients with higher copy numbers of SMN2, was less in more severe types of the disease. Earlier onset of the disease was significantly seen in patients with lower copy numbers of SMN2. The neuronal apoptosis inhibitory protein (NAIP) gene deletion was associated with a higher incidence of more severe types of SMA, higher dependency on ventilators, tube feeding, and earlier onset of the disease. CONCLUSIONS: The IRSMA is the first established Iranian nationwide registry of patients with SMA. Using this registry, decision-makers, researchers, and practitioners can precisely understand the epidemiology, characteristics, and genetics of patients with SMA in Iran.

The role and therapeutic applications of exosomes in multiple sclerosis disease.

A range of the central nervous system (CNS) and immune cells are affected by multiple sclerosis (MS), a complex autoimmune disease of the CNS. Chronic neuroinflammation, demyelination, and neuronal death are all features of MS, but the disease's molecular mechanisms are unknown. Exosomes are small, membrane-bound extracellular vesicles with a crucial role in cell communication. They are stable in biological fluids and emerge from the cell membrane during endocytic internalization. It might be possible to recognize better the mechanisms involved in the development and progress of illnesses by understanding the variety of exosomal contents and their associated targets, like neurologic disorders. In this review, we sought to bring together important data on the biology of exosomes in MS and highlight discoveries on these nanoparticles' prognostic, diagnostic and therapeutic potential.

Be careful of lies: a six-year-old boy with respiratory distress and decreased level of consciousness.

We reports a six-year-old child with autistic disorder and methadone intoxication. Developmental disorders may mislead the caretakers and doctors to interpret the clinical manifestation and behavioral changes of these patients. Methadone indigestion can be fatal in children even in a tiny amount and cardiac monitoring should be performed at least for the first 24 hours. The pervasive prescription of methadone for detoxification programs and its extensive availability at homes of the addicted parents should point parents, doctors and media to pay more attention to provide safe-home environment for children. 

A neonate with indurate dermal papules and nodules and pneumonia: a case report.

We presents an infant with several indurated plaques and nodules scattered on her body. She was brought to the hospital because of fever, runny nose and cough from one month ago. During the examination and investigation the plaques and nodules grabbed the attention of the clinicians and the skin biopsy and other lab works revealed the diagnosis of congenital leukemia.

Sudden impolite behavior in a polite girl: a case report.

In this case we present a previously healthy child with sudden behavioral change and acute confusional state (ACS). ACS is a neurologic emergency. The clinical manifestations of ACS are; confused affect, limited verbal response, disturbance in performing orders, some automatism, stable vital signs and absence of tonic-clonic movements and it has a wide range of differential diagnosis which should be assessed by detailed medical history, medical examination and laboratory tests. The only abnormal test found in this patient, was cerebrospinal fluid abnormality, consistent with viral encephalitis.