Inborn errors of immunity with kidney and urinary tract disorders: a review.

Human inborn errors of immunity (IEIs), previously referred to as primary immunodeficiency disorders (PIDs), are a heterogeneous spectrum of inherited abnormalities of the immune system with different organ involvement. The number of identified IEIs is rapidly increasing, highlighting the non-negligible role of an interdisciplinary approach in clinical diagnosis. Kidney disorders are one of the important comorbidities in some of the affected patients and play a significant role in the diagnosis and course of disease. According to recent studies, 22 types of human IEI with renal manifestations have been identified so far, including immunodeficiency with congenital thrombocytopenia, thymic defects with additional congenital anomalies, complement deficiencies, type 1 interferonopathies, immunity related to non-hematopoietic tissues, congenital neutropenia's, common variable immunodeficiency disorder (CVID) phenotype and immuno-osseous dysplasia. Based on this classification, we herein review IEIs with renal features and explain the genetic defect, inheritance, and type of renal manifestations.

Role of Farnesoid Receptors and Nrf2-mediated Genes in Gentamicin-induced Nephrotoxicity in Rat: A Time-course Study.

INTRODUCTION: Farnesoid-X-activated receptor (FXR) is considered as an upstream controller which could influence the other key regulatory genes encoding cellular antioxidant defense system. METHODS: Thirty-five male Wistar rats (240 ± 20 g) were randomly allocated into five groups: 1) control, 2) received gentamicin (100 mg/kg/d) for three days (GM-3d), 3) seven days (GM-7d), 4) 10 days (GM-10d), and 5) 14 consecutive days (GM-14d). Biochemical measurements of BUN and serum creatinine (SCr), histological assessment of renal samples as well as molecular analysis using real-time qRT-PCR were used to investigate the pattern of changes in different levels. RESULTS: Administration of gentamicin was associated with a significant increase in the BUN and SCr until the 10th day, which then suddenly dropped at the day 14. Meantime, the maximum histological distortion was also seen on the 10th day but in a similar pattern, 14th day was associated with clear improvement. Compared to the control value, the maximum reduction in the mRNA expression of Farnesoid X-activated receptor (FXR), nuclear factor erythroid 2-related factor 2 (Nrf2) and Glutathione cysteine ligase-modulatory subunit (GCLM), occurred at the 3rd and 7th days, respectively. Compared to the control, the mRNA expression of the mentioned genes significantly increased up to day 14. Apart from the 3rd day, the mRNA expression of alpha-glutathione S-transferase (α-GST) and superoxide dismutase (SOD) showed a similar descending and ascending pattern at 7th and 10th days, respectively. CONCLUSION: The expression of FXR, as an upstream controller gene and its downstream pathways mediated by Nrf2, could play a role in gentamicin-induced nephrotoxicity but the pattern of expression was rather biphasic at the acute phase or the subacute ones.  DOI: 10.52547/ijkd.7523.

Organochlorine pesticides and epigenetic alterations in thyroid tumors.

Purpose: Cancer incidence depends on various factors e.g., pesticide exposures which cause epigenetic alterations. The present research aimed to investigate the organochlorine pesticides (OCPs) impacts on promoter methylation of three tumor-suppressor genes and four histone modifications in thyroid nodules in 61 Papillary thyroid carcinoma (PTC) and 70 benign thyroid nodules (BTN) patients. Methods: OCPs were measured by Gas chromatography. To identify promoter methylation of TSHR, ATM, and P16 genes, the nested-methylation-specific PCR (MSP) was utilized, and histone lysine acetylation (H3K9, H4K16, and H3K18) and lysine methylation (H4K20) were detected by performing western blot analysis. Results: Further TSHR methylation and less P16 methylation were observed in PTC than in BTN. No substantial difference was detected for ATM methylation between PTC and BTN groups. Also, OCP dramatically increased the odds ratio of TSHR (OR=3.98, P=0.001) and P16 (OR=5.65, P<0.001) methylation while confounding variables reduced the chances of ATM methylation arising from 2,4-DDE and 4,4-DDT influence. Hypomethylation of H4K20 and hypo-acetylation of H3K9, H4K16, and H3K18 (P<0.001) were observed in PTC samples than BTN. Furthermore, OCPs substantially decreased the odds ratio of H3K9 (OR=3.68, P<0.001) and H4K16 (OR=6.03, P<0.001) acetylation. Conclusion: The current research indicated that OCPs could contribute to PTC progression by TSHR promoter hypermethylation and decreased acetylation of H3K9 and H4K16. In addition, in PTC patients, assessing TSHR promoter methylation and acetylation of H3K9 and H4K16 could have predictive values.

Graft and Patient Survival Rate among Iranian Pediatric Recipients of Kidney Transplantation: A Systematic Review and Meta-Analysis.

Background: The End Stage Renal Disease (ESRD) is irreversible impairment of renal function, to the extent that the patient becomes permanently dependent on alternative therapies, especially in children. We aimed to evaluate the graft and patient survival rate among iranian pediatric recipients of kidney transplantation through a systematic review and meta-analysis. Methods: National (SID, MagIran, IranMedex, IranDoc) and international (Cochrane, Embase, ScienceDirect, Scopus, PubMed, and Web of Science) databases of, were searched to find studies published electronically from 1985 until Nov 2019. Heterogeneity between the collected studies was determined using the Cochran's test (Q) and I2. Meta-regression was used to investigate the factors affecting statistical heterogeneity in 1, 5, and 10-year survival of kidney transplantation in addition to subgroup analysis based on cities. Results: Ten studies were qualified to enter the meta-analysis. The total participants in the study were 2673 people with an average age of 13.71±3.65 years. In the random-effects model, the survival rate of 1, 3, 5 and 10 yr of kidney transplantation were 91, 88, 81 and 70%, respectively. Conclusion: By providing the documented and comprehensive evidence, can be the basis of many plans, policies, and decisions of various sectors of development. These sectors include the evaluation of treatment programs and health interventions in the pediatric kidney transplantation. The results of the present study can provide an acceptable estimate of the survival rate of transplanted children in Iran and will be useful for planning prevention and treatment programs.

Classical music restored fertility status in rat model of premature ovarian failure.

BACKGROUND: The restorative effect of classical music was assessed on the cyclophosphamide-induced animal model of premature ovarian failure (POF). METHODS: Mozart's piano classical music (K.448) was used for up to 4 and 8 weeks. Rats were exposed to music 6 h every day using a stereo system with a volume of 65-70 dB. Sera and ovarian tissue samples were collected for the evaluation of FSH, LH, and E2 and histopathological examination. At the same time points, samples were taken from the hypothalamus and hippocampus to monitor the expression of Ntrk2, Crh, and Pomc using real-time PCR. Mating trial was performed to evaluate the fertility status of POF rats. RESULTS: Histopathological examination revealed a significant increase (p < 0.05) in the numbers of morphologically normal follicles at all the developmental stages in POF rats after music therapy compared to the POF group (p < 0.05). Music therapy decreased FSH and LH levels to near-to-normal levels conidied with elevation of E2 (p < 0.05). Ntrk2, Crh, and Pomc expressions were down-regulated in POF rats. Music therapy increasaed the expression of Ntrk2 in the hypothalamus of POF rats (p < 0.05). In contrast, Crh and Pomc failed to reach the detection limit before intervention and four weeks after the intervention however, these genes were expressed eight weeks after music therapy. Fertility status was increased (p < 0.05) in terms of litter size in POF rats after being exposed to music compared to the non-treated POF control group (p < 0.05). CONCLUSION: Results showed that music can exert therapeutic effects on POF rats via the alteration of sex-related hormones.

Symptomatic care of late-onset Alexander disease presenting with area postrema-like syndrome with prednisolone; a case report.

BACKGROUND: Alexander disease (AxD) is classified into AxD type I (infantile) and AxD type II (juvenile and adult form). We aimed to determine the potential genetic cause(s) contributing to the AxD type II manifestations in a 9-year-old male who presented area postrema-like syndrome and his vomiting and weight loss improved after taking prednisolone. CASE PRESENTATION: A normal cognitive 9-year-old boy with persistent nausea, vomiting, and a significant weight loss at the age of 6 years was noticed. He also experienced an episode of status epilepticus with generalized atonic seizures. He showed non-febrile infrequent multifocal motor seizures at the age of 40 days which were treated with phenobarbital. He exhibited normal physical growth and neurologic developmental milestones by the age of six. Occasionally vomiting unrelated to feeding was reported. Upon examination at 9 years, a weak gag reflex, prominent drooling, exaggerated knee-deep tendon reflexes (3+), and nasal tone speech was detected. All gastroenterological, biochemical, and metabolic assessments were normal. Brain magnetic resonance imaging (MRI) revealed bifrontal confluent deep and periventricular white matter signal changes, fine symmetric frontal white matter and bilateral caudate nucleus involvements with garland changes, and a hyperintense tumefactive-like lesion in the brain stem around the floor of the fourth ventricle and area postrema with contrast uptake in post-contrast T1-W images. Latter MRI at the age of 8 years showed enlarged area postrema lesion and bilateral middle cerebellar peduncles and dentate nuclei involvements. Due to clinical and genetic heterogeneities, whole-exome sequencing was performed and the candidate variant was confirmed by Sanger sequencing. A de novo heterozygous mutation, NM_001242376.1:c.262 C > T;R88C in exon 1 of the GFAP (OMIM: 137,780) was verified. Because of persistent vomiting and weight loss of 6.0 kg, prednisolone was prescribed which brought about ceasing vomiting and led to weight gaining of 3.0 kg over the next 3 months after treatment. Occasional attempts to discontinue prednisolone had been resulting in the reappearance of vomiting. CONCLUSIONS: This study broadens the spectrum of symptomatic treatment in leukodystrophies and also shows that R88C mutation may lead to a broad range of phenotypes in AxD type II patients.

Looking at Thyroid Cancer from the Tumor-Suppressor Genes Point of View.

Thyroid cancer is the most frequent endocrine malignancy and accounts for approximately 1% of all diagnosed cancers. A variety of mechanisms are involved in the transformation of a normal tissue into a malignant one. Loss of tumor-suppressor gene (TSG) function is one of these mechanisms. The normal functions of TSGs include cell proliferation and differentiation control, genomic integrity maintenance, DNA damage repair, and signaling pathway regulation. TSGs are generally classified into three subclasses: (i) gatekeepers that encode proteins involved in cell cycle and apoptosis control; (ii) caretakers that produce proteins implicated in the genomic stability maintenance; and (iii) landscapers that, when mutated, create a suitable environment for malignant cell growth. Several possible mechanisms have been implicated in TSG inactivation. Reviewing the various TSG alteration types detected in thyroid cancers may help researchers to better understand the TSG defects implicated in the development/progression of this cancer type and to find potential targets for prognostic, predictive, diagnostic, and therapeutic purposes. Hence, the main purposes of this review article are to describe the various TSG inactivation mechanisms and alterations in human thyroid cancer, and the current therapeutic options for targeting TSGs in thyroid cancer.

Naringenin enhances anti-proliferation effect of 1-ferrocenyl-3-(4-methylsulfonylphenyl) propen-1-one on two different cells via targeting calmodulin signaling pathway.

BACKGROUND: FMSP is a synthesized ferrocene derivative with anti-cancer characteristics on tumor cells. Naringenin is a polyphenolic flavonoid with anti-tumor ability. METHODS: Cell viability and proliferation of two cancer cells and a normal cell line after treatment with these agents were determined with MTT assay. To predict the possible interaction between calmodulin (CaM) and FMSP and naringenin, docking studies were performed. By using fluorescence emission spectra, the effects of FMSP and naringenin on CaM structure and activity were studied. CaM-dependent activation of phosphodiesterase 1 (PDE1) by FMSP in relation to naringenin and their combination were compared. Effects of these compounds on PDE1 inhibition, cAMP accumulation, and cAMP-dependent protein kinase A (PKA) activation were assayed. RESULTS: The combination of FMSP and naringenin had more inhibitory effects on CaM structure than FMSP and naringenin alone. Results of docking analyses also confirmed efficient interaction of the two compounds with a hydrophobic pocket of calmodulin active site. Kinetic analyses of these agents' interaction with CaM showed FMSP and naringenin both competitively inhibited PDE1 activation without changing the Vmax parameter. FMSP and naringenin synergistically increased Km values at a higher level compared to FMSP or naringenin alone. The combination of these two agents also had more cytotoxic effects on cancer cells than FMSP alone. CONCLUSIONS: It was shown that mechanism of proliferation inhibition in both cancer cells by these compounds is based on CaM and consequent PDE inhibition followed by intracellular cAMP level elevation and increased PKA activity in a dose-dependent manner.

In-silico design of a multi-epitope for developing sero-diagnosis detection of SARS-CoV-2 using spike glycoprotein and nucleocapsid antigens.

COVID-19 is a pandemic disease caused by novel corona virus, SARS-CoV-2, initially originated from China. In response to this serious life-threatening disease, designing and developing more accurate and sensitive tests are crucial. The aim of this study is designing a multi-epitope of spike and nucleocapsid antigens of COVID-19 virus by bioinformatics methods. The sequences of nucleotides obtained from the NCBI Nucleotide Database. Transmembrane structures of proteins were predicted by TMHMM Server and the prediction of signal peptide of proteins was performed by Signal P Server. B-cell epitopes' prediction was performed by the online prediction server of IEDB server. Beta turn structure of linear epitopes was also performed using the IEDB server. Conformational epitope prediction was performed using the CBTOPE and eventually, eight antigenic epitopes with high physicochemical properties were selected, and then, all eight epitopes were blasted using the NCBI website. The analyses revealed that α-helices, extended strands, ß-turns, and random coils were 28.59%, 23.25%, 3.38%, and 44.78% for S protein, 21.24%, 16.71%, 6.92%, and 55.13% for N Protein, respectively. The S and N protein three-dimensional structure was predicted using the prediction I-TASSER server. In the current study, bioinformatics tools were used to design a multi-epitope peptide based on the type of antigen and its physiochemical properties and SVM method (Machine Learning) to design multi-epitopes that have a high avidity against SARS-CoV-2 antibodies to detect infections by COVID-19.

Oral Contraceptive Steroids Promote Papillary Thyroid Cancer Metastasis by Targeting Angiogenesis and Epithelial-Mesenchymal Transition.

Thyroid cancer is the most prevalent type of endocrine malignancy with the highest incidence rate among women under 45 years old. Ethinylestradiol (EE) and levonorgestrel (LNG) are two steroid components of low-dose oral contraceptives used all over the world. In this study, we aimed to examine the possible effects of the combination of these two steroids on metastasis and angiogenic factors in BCPAP papillary thyroid cancer (PTC) cell line. After treatment of BCPAP cells with the combination of 20 nM EE and 90 nM LNG, mRNA expression levels of long noncoding RNAs HOTAIR and MALAT1, angiogenic and antiangiogenic gene markers VEGFA and THBS1, and epithelial-mesenchymal transition (EMT) biomarkers CDH1, CDH2, FN1, and VIM were analyzed by real-time PCR. Additionally, the protein expression of VEGFA was semiquantified by Western blotting. Results showed that the combination of LNG and EE significantly elevated the level of VEGFA protein and mRNA expression of VEGFA, MALAT1, HOTAIR, CDH2, FN1, and VIM genes while decreased CDH1 gene expression but had no marked effect on the expression of THBS1 gene in comparison with the control group. Also, our results suggest that LNG and EE may increase the metastatic and migratory properties of BCPAP cells via modulating angiogenic and EMT biomarkers. These data may highlight the potential of exogenous steroids in the advancement of PTC tumors.

Effect of Tricuspid Valve Repair in Patients with Moderate Tricuspid Regurgitation undergoing Left-Sided Valve Surgery.

BACKGROUND: The benefits of tricuspid valve (TV) repair in patients with moderate tricuspid regurgitation (TR) during left-sided valve surgery are under debate. We investigated independent predictors for reduction in TR severity following left-sided valve surgery in patients with moderate TR. METHODS: In this study, we included 106 patients (male: 33%) with a mean age of 4.23 ± 12.61 years who had moderate TR and underwent mitral or aortic valve surgery between March 2012 and November 2016. Concomitant tricuspid annuloplasty was done for one group of patients based on surgeon's decision. Transthoracic echocardiography was done before and at a median followup of 4.71 months for all patients. The patients were divided into improved and unimproved TR groups, with the term "improved" signifying a reduction of at least one grade in TR severity. RESULTS: Tricuspid annuloplasty was performed on 65 (61.3%) patients. TR improvement was observed in 87.7% of patients in the TV repair group and 56.1% of patients in the no-TV repair group, indicating a significant difference (P < 0.001). Tricuspid annulus diameter was not significantly different between the two groups (32.41 ± 4.68 mm in no-TV repair group and 33.87 ± 4.34 mm in TV repair group, P = 0.128). At follow-up with echocardiography, 80 (75.5%) patients were placed in the improved group and the majority of patients (71.3% vs. 30.8%; P < 0.001) underwent tricuspid repair in the improved group. TV annuloplasty was correlated with reduced TR severity following left-sided valve surgery (odds ratio [OR]: 5.19, 95% CI: 1.70-15.85, P < 0.001). TR changed from moderate to severe in 17 (17.1%) patients with no concomitant tricuspid repair, while only one patient (1.5%) with tricuspid repair showed an increased TR severity. CONCLUSION: Tricuspid annuloplasty may be useful in patients who have moderate TR undergoing left-sided valve surgery regardless of the tricuspid annulus diameter, and it can play an effective role in the improvement of TR at mid-term follow-up.

Candidate antigenic epitopes for vaccination and diagnosis strategies of Toxoplasma gondii infection: A review.

Toxoplasmosis caused by an obligatory intracellular protozoan parasite of Toxoplasma gondii threats a wide spectrum of human and animal hosts. It has been shown that the intensity of the disease in humans depends on the host's immune responses. Immunological investigations on whole protein molecules of T. gondii have shown that these antigens are not fully responsible for the immune response, which leads to a decrease in specificity and affinity of the antigen (epitope)-antibody (paratope) binding. Currently, epitopes have shown promising entities to stimulate B, T, cytotoxic T lymphocyte, and NK cells resulting in enhancement of protective immunity against toxoplasmosis patients. Thus, the accurate designing, prediction, and conducting of antigenic epitopes of T. gondii (with linear and/or spatial structures (can augment our understanding about development of new serological diagnostic kits and vaccines. The current review provides an update on the latest advances of current epitopes described against toxoplasmosis including B cell/T cell epitopes, antigen types, parasite strains, epitope sequences, assay settings (in vitro and/or in vivo), and target strategy. Present results disclosed that the designing of effective multiepitopes of T. gondii by in silico modeling and immunoinformatics tools can strengthen our knowledge about triggering of epitope-based vaccine/diagnosis strategies in future perspectives.

Normal values for tissue velocity and strain rate imaging parameters of left and right atrial myocardium in normal subjects.

OBJECTIVE: To determine normal values for tissue velocity imaging (TVI) and strain rate imaging (SRI) in the left atrium (LA) and right atrium (RA) in normal subjects. METHODS: A total of 63 healthy volunteers (50.8% male, age: 20-50 years) prospectively underwent TVI and SRI. The peak systolic velocity (TVs), strain (STs) and strain rate (SRs), peak early and late diastolic velocities (TVe and TVa), strain (STe and STa), and strain rate (SRe and SRa) were measured in the base and mid of the LA and RA walls and roofs. RESULTS: By TVI, TVs and TVe of LA walls decreased significantly from basal to mid-level and from mid to the roof. Mean Tva of LA walls reduced significantly from basal to mid-level and to the roof. By SRI, mean STs and STe of LA walls increased remarkably from basal to mid-level and to the roof and also mean SRs, SRe and SRa increased significantly from basal to mid-level and to the roof. For SRe, the changes were also significant from mid-LA wall to the roof. Mean Tvs, Tve, and Tva of the RA walls reduced significantly from base to mid and then to the RA roof. RA systolic, early, and late diastolic ST and SR increased from base to mid and to the roof. CONCLUSION: Peak systolic and diastolic velocities of the LA and RA decreased from the base to the mid and to the roof, while systolic and diastolic ST and SR increased from the base to the mid to the roof.

Down regulation of ITGA4 and ITGA5 genes after formation of 3D spherules by human Wharton's jelly stem cells (hWJSCs).

Human Wharton's jelly mesenchymal stem cells (hWJSCs) are multipotent stem cells that could be aggregated into 3D spherules. ITGA4 and ITGA5 genes encode α4 and α5 subunits of integrins, respectively. In this study, we analyzed expression levels of ITGA4 and ITGA5 gene mRNAs in undifferentiated and 3D spherules forming hWJSCs in order to determine their expression pattern for possible future treatment of cancer cells in a co-culture fashion. For the purpose of obtaining hWJSCs, umbilical cords were collected from patients with caesarian section at full term delivery. The cells were then characterized according to cell surface markers using flow cytometry. Furthermore pluripotency of the obtained cells was verified. Subsequently the cells were aggregated in 3D spherules using hanging drop cultures. Expression levels of ITGA4 and ITGA5 gene mRNAs were determined by RT-PCR and Real time PCR, both in the initial undifferentiated cells and those aggregated in the spherules. The obtained hWJSCs demonstrated pluripotency, differentiating to adipogenic and osteogenic cells. They also expressed mesenchymal stem cell surface markers. Following the aggregation of these cells and formation of 3D spherules, mRNA expression levels of both genes were significantly reduced (P < 0.05) compared with the initial undifferentiated state. The results of this study demonstrated that aggregation of hWJSCs into spherules alters their expression of ITGA4 and ITGA5. The implications of such an alteration would require further research.

Comparative efficacy of zonisamide and pregabalin as an adjunctive therapy in children with refractory epilepsy.

OBJECTIVE: Approximately one third of epileptic children are resistant to anticonvulsant drugs. This study evaluates the effectiveness, safety, and tolerability of pregabalin as adjunctive therapy in epileptic children relative to Zonisamide. MATERIALS & METHODS: From April 2012 to November 2012,121 children were referred to Mofid Children's Hospital with intractable epilepsy and enrolled in the study. The patients were divided into two groups (A and B) randomly. Group A was treated with Zonisamide and group B was treated with Pregabalin in addition to prior medication. We assessed seizure frequency and severity during a 4-week interval from the beginning of the drug treatment and compared the efficacy of each in these two groups. RESULTS: Group A consists of 61 patients, 26 (42.6%) girls, and35 (57.4%) boys with an age range from 1.5 months-14 years (mean, 73.9± 44.04 months). Group B consists of 60 patients, 31(51.7%) girls, 29 (48.3%) boys with an age range from 6 months-16 years (mean, 71±42.9 months). Age, gender, seizure onset, seizure frequency, seizure type, and previous antiepileptic medications showed that there was no significant difference between the groups (P>0.05). Zonisamide and pregabalin reduced more than 50% of seizure intensity in 40.2%; 45.8% of patients also had a seizure frequency decline between35.8-44.4%, respectively and there was no significant superiority between these two novel anticonvulsants (P>0.05). CONCLUSION: In this survey both pregabalin and Zonisamide were impressive for seizure control in children with intractable epilepsy and well sustained with mild complications that were completely reversible.

Potential drug-drug interactions in prescriptions dispensed in community and hospital pharmacies in East of Iran.

OBJECTIVE: This study aim to evaluate and compare type and prevalence of drug-drug interactions (DDIs) in prescriptions dispensed in both community and hospital setting in Zabol, Iran. METHODS: A total of 2796 prescriptions were collected from community and inpatient and outpatient pharmacy of Amir-al-momenin only current acting hospital in Zabol, Iran. The prescriptions were processed using Lexi-Comp drug interaction software. The identified DDIs were categorized into five classes (A, B, C, D, X). FINDINGS: Overall 41.6% of prescriptions had at last one potential DDI. The most common type of interactions was type C (66%). The percentage of drug interactions in community pharmacies were significantly lower than hospital pharmacies (P < 0.0001). CONCLUSION: Our results indicate that patients in Zabol are at high risk of adverse drug reactions caused by medications due to potential DDIs. Appropriate education for physicians about potentially harmful DDIs, as well as active participation of pharmacists in detection and prevention of drug-related injuries, could considerably prevent the consequence of DDIs among patients.

Mirror movement associated with neural tube defects.

OBJECTIVE: Association of mirror movements with special kinds of neural tube defects, particularly cranial dermal sinus and cervical myelomeningocele, is extremely rare. We have tried to explain the probable pathophysiology underlying this rare condition. CLINICAL PRESENTATION: Two cases are presented. Case 1: A right-handed 3-year-old boy brought to the outpatient clinic for evaluation of mirror movement had been operated on at 10 days of age to repair a cervical myelomeningocele. At examination, mirror movements were observed on both sides. Case 2: A right-handed 7-year-old boy referred for vertigo and occasional vomiting since 3 months of age. The mirror movements were present in the upper extremities, and reportedly had existed since early childhood. Brain magnetic resonance imaging disclosed the dermal sinus, tract, and midline dermoid tumor. CONCLUSION: To describe a meaningful association between mirror movements and congenital abnormalities in 2 cases reported here, we propose development of an abnormality in the cervical spinal cord (case 1) and cervicomedullary junction (case 2) associated with gross anomalies in the affected areas.