A Case Report of Congenital Insensitivity to Pain and Anhidrosis (CIPA)

How to Cite this Article: Karimi M, Fallah R. A Case Report of Congenital Insensitivity to Pain and Anhidrosis (CIPA). Iran J Child Neurol 2012; 6(3): 45-48. Congenital insensitivity to pain and anhidrosis (CIPA) or hereditary sensoryautonomic neuropathies type IV (HSAN type IV) is an extremely rare autosomalrecessive disorder initially described by Swanson in 1963.We report a 2.5-year-old boy with clinical features of CIPA as the first case in Iran.The symptoms included recurrent episodes of hyperthermia and unexplainedfever that began in early infancy, anhidrosis (inability to sweat), profound lossof pain sensitivity, neurodevelopmental delay, unconscious self-mutilation offingers, lips and tongue, corneal lacerations, palmar hyperkeratosis, non-painfulfracture and joint deformities in the right ankle. Tearing, deep tendon reflexesand motor and sensory nerve action potentials were normal.Prenatal screening is the sole accessible option to prevent the birth of anaffected child as no cure is available. Early recognition of CIPA patients and itsorthopedic complications, prevention of accidental injuries, regular visual andeye follow-up and specific dental management could be useful in the reductionof frequency and severity of complications. ReferencesNagasako EM, Oaklander AL, Dworkin RH.Congenital insensitivity to pain: an update. Pain 2003 Feb;101(3):213-9.Swanson AG. Congenital insensitivity to pain with anhidrosis. A unique syndrome in two male siblings.Arch Neurol 1963 Mar;8:299-306.Dave N, Sonawane A, Chanolkar S. Hereditary sensoryautonomic neuropathy and anaesthesia - a case report.Indian J Anaesth 2007;51(6):528-30.Sasnur AH, Sasnur PA, Ghaus-Ul RS.Congenital insensitivity to pain and anhidrosis. Indian J Orthop 2011May-Jun;45(3):269-71.Lin YP, Su YN, Weng WC, Lee WT. Novel neurotrophictyrosine kinase receptor type 1 gene mutation associated with congenital insensitivity to pain with anhidrosis. J Child Neurol 2010 Dec;25(12):1548-51.Eslamian F, Soleymanpour J. Case report: two casereports of hereditary sensory autonomic neuropathy typeII in a family. Med J Tabriz Uni Med Sci 2009;31(1):91-4.Gharagozlou M, Zandieh F, Tabatabaei P, Zamani GH.Congenital sensory neuropathy as a differential diagnosis for phagocytic immunodeficiency. Iran J Allergy Asthma Immunol 2006 Mar;5(1):35- 7.Menkes JH. Heredo degenerative Diseases. In: Menkes JH, Sarnat HB, Maria BL. Child neurology. 7th ed.Philadelphia: Lippincott; 2006. p. 194-8.Schwarzkopf R, Pinsk V, Weisel Y, Atar D, Gorzak Y.Clinical and genetic aspects of congenital insensitivity topain with anhidrosis. Harefuah 2005 Jun;144(6):433-7,453, 452. [Article in Hebrew]Machtei A, Levy J, Friger M, Bodner L. Osteomyelitisof the mandible in a group of 33 pediatric patients with congenital insensitivity to pain with anhidrosis. Int J Pediatr Otorhinolaryngol 2011 Apr;75(4):523-6.Jarade EF, El-Sheikh HF, Tabbara KF. Indolent cornealulcers in a patient with congenital insensitivity to pain with anhidrosis: a case report and literature review. Eur J Ophthalmol 2002 Jan-Feb;12(1):60-5.John D, Thomas M, Jacob P Neurotrophic keratitisand congenital insensitivity to pain with anhidrosis-a case report with 10-year follow-up. Cornea 2011 Jan;30(1):100-2.Bonkowsky JL, Johnson J, Carey JC, Smith AG,Swoboda KJ. An infant with primary tooth loss andpalmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis. Pediatrics 2003 Sep;112(3 Pt 1):e237-41.Neves BG, Roza RT, Castro GF. Traumatic lesions from congenital insensitivity to pain with anhidrosis in a pediatric patient: dental management. Dent Traumatol 2009 Oct;25(5):545-9.

Image Inpainting by Hyperbolic Selection of Pixels for Two Dimensional Bicubic Interpolations

Image inpainting is a restoration process which has numerous applications. Restoring of scanned old images with scratches, or removing objects in images are some of inpainting applications. Different approaches have been used for implementation of inpainting algorithms. Interpolation approaches only consider one direction for this purpose. In this paper we present a new perspective to image inpainting. We consider multiple directions and apply both one-dimensional and two-dimensional bicubic interpolations. Neighboring pixels are selected in a hyperbolic formation to better preserve corner pixels. We compare our work with recent inpainting approaches to show our superior results

Cancer-Associated Thrombosis

Thrombosis is a common complication in patients with cancer and it is estimated that about 20% of patients with cancer experience venous thromboembolism (VTE). This complication is associated with high rate of morbidity and mortality and is sometimes the first manifestation of an occult cancer. The risk profiles and markers involved in cancerassociated thrombosis share similarities with inflammation-induced atherosclerosis and thrombosis. The type of cancer, chemotherapy, surgery, central venous catheters, pre-chemotherapy platelet and leukocyte count are associated with high risk of VTE in cancer patients. Landmark studies demonstrated that effective prophylaxis and treatment of VTE reduced morbidity and increased survival. Low-molecular-weight heparin (LMWH) is preferred as an effective and safe means for prophylaxis and treatment of VTE. It has largely replaced unfractionated heparin and vitamin K antagonists. The advantages of LMWH include increased survival and quality of life, decreased rate of VTE, low incidence of thrombocytopenia. New guidelines for prophylaxis and treatment are now available and prophylaxis is recommended in hospitalized cancer patients and patients undergoing major surgery. Treatment with LMWH should be considered as the first line of therapy for established VTE and to prevent recurrent thrombosis in patients with cancer

Insulin-like growth factor-1 levels in children with Beta-thalassemia minor

Objective: Growth retardation in children with b-thalassemia major is multifactorial. Some etiologies described for this condition are hemochromatosis, disturbed growth hormone (GH) / insulin growth factor-1 (IGF-1) axis, undernutrition and hypermetabolism. It has also been proven that growth retardation is present in b-thalassemia major children despite regular transfusion and chelation. Our aim was to evaluate the level of IGF-1 in b-thalassemia minor subjects and compare it with that in healthy children. Material and Methods: Fifty children aged 6 months to 15 years with b-thalassemia minor (32 males, 18 females) and 50 age- and sex-matched normal healthy children were selected. Medical history was taken and complete physical examination was done in each case; IGF-1 level was checked in all cases. This study was done in Shiraz, southern Iran, during 2005.Results: IGF-1 levels were significantly lower in b-thalassemia minor children than normal children (P = 0.015). This result demonstrates that some etiologies of growth failure in b-thalassemia major other than those described to date can exist, which may be shared with b-thalassemia minor in feature or may be transformed by genes that are either expressed or not.Conclusion: We conclude that in addition to that observed in b-thalassemia major, IGF-1 level is also decreased in b-thalassemia minor, and these two may have similar etiologies

Quality of life: Transfusion dependent thalassemia vs non-transfusion dependent thalassemia

Although the improvements in the treatment and management of thalassemia patients in new years lead to the improved survival and quality of life (QOL) in this group of patients, QOL is still is an important dimension of care in thalassemic patients. WHO defines QOL as “an individual’s perception of their position in life in the context of the culture and value systems in which they live and in relation to their goals, expectations, standards, and concerns”. Thalassemia is a chronic disease needs life-long care with multiple physical, mental and social complications that affect QOL in patients. The most important factors which affect QOL in thalassemia are: effects of the disease on family, skeletal and face changes, frequent blood transfusion and drug infusion, sexual impairment and infertility, heart and liver disease as well as endocrine disorders, anxiety and low life expectancy

The Role of Amnion Membrane-Derived Mesenchymal Stem Cells on Differentiation and Expansion of Natural Killer Cell Progenitors Originated From Umbilical Cord Blood Mononuclear Cells

Abstract Background: Natural killer (NK) cells are members of the innate immune system. Their unique properties, including recognition of viral infected and tumor cells without major histocompatibility complex (MHC) restriction or prior sensitization, make them a suitable choice for immunotherapy. Low numbers of NK cells in circulating blood is the most important obstacle for this goal. Objectives: The aim of this study was to make an optimum in vitro condition to proliferate and differentiate cord blood (CB)-NK cell progenitors to mature NK cells, which can be used for cell therapy. Materials and Methods: In our study, CB-Mononuclear Cells’ (MNCs) CD3+ lymphocytes were positive depleted using immunomagnetic microbeads. This CD3-depleted (CD3-dep) CB - MNCs compartment was used for in vitro expansion with or without a layer of amnion membrane mesenchymal stem cells (MSCs) in combination with cytokines that are essential for NK cells expansion (IL-2, IL-3, IL-15, and FLT3 ligand). The expansion period lasted for one week. On day seven, immunophenotype and fold expansion of differentiated cells were measured. Results: Combination of cytokines and MSC layer yielded significant fold expansion in comparison with cytokines without feeder conditions (day 7: 5.2 ± 1.12 and 2 ± 0.78, respectively, P < 0.05). CD3-/CD56+ cells percentage increased during the culture period in MSCs/with cytokine and cytokine/without feeder, respectively (day 0: 4.4 ± 0.42% and day 7: 22.9 ± 3.6% and 13.9 ± 1.92 % for MSC/with cytokine and cytokine without feeder, respectively). Conclusions: Our results suggested that CB-NK cells progenitors could proliferate and differentiate on feeder layer of amnion membrane MSCs in combination with specific cytokines to produce NK cells for immunotherapy. Keywords: Umbilical Cord Blood, Natural Killer Cell, Mesenchymal Stem Cel

Intracranial Blood Flow Velocity in Patients with β-Thalassemia Intermedia Using Transcranial Doppler Sonography: A Case-Control Study

Introduction. Patients with β-thalassemia intermedia have a higher incidence of thromboembolic events compared to the general population. Previous studies have shown that patients with sickle cell disease, who are also prone to ischemic events, have higher intracranial arterial blood flow velocities measured by transcranial Doppler sonography (TCD). The aim of this study is to evaluate intracranial arterial flow velocities in patients with β-thalassemia intermedia and compare the results with those found in healthy subjects. Methods. Sixty-four patients with β-thalassemia intermedia and 30 healthy subjects underwent transcranial Doppler sonography. Results. Significantly higher flow velocities were found in intracranial arteries of patients compared to controls (P = 0.001). Previously splenectomized patients with thrombocytosis showed higher flow velocities than nonsplenectomized patients without thrombosis. Conclusion. The increased flow velocities in patients with β-thalassemia intermedia may point to a higher risk of ischemic events. Preventive measures such as blood transfusion or antiplatelet treatment may be beneficial in these patients

Spatial Analysis of Jiroft Plain Subsidence Using the Coherence Pixel Technique (CPT)

AbstractThe phenomenon of land subsidence is one of the most important environmental hazards that have affected many plains of the country today. Jiroft Plain located in Kerman Province is also one of the areas where subsidence effects are evident. In this research, besides analyzing the spatial subsidence of Jiroft Plain and determining the extent and trend of its spread over a period of time, the effective factors in this phenomenon were investigated. For this purpose, the Sentinel-1 radar images related to the years of 2014-2022 were used. The Coherence Pixel Technique (CPT) was utilized to map the affected areas and determine the subsidence rate. The results of this method showed that the subsidence rate in Jiroft Plain had increased from 11 cm in 2014 to 13 cm in 2022. In addition, its area had increased during this period and the expansion trend had moved towards the northern areas of the plain. To analyze the causative factors of this phenomenon, in addition to studying the changes in the groundwater level of the plain and its relationship with subsidence, the roles of faults and soil thickness in creating or intensifying this phenomenon were investigated. The results showed that in addition to the uncontrolled abstraction from the aquifer, the subsidence of Jiroft Plain was affected by Sabzevaran Fault, while subsidence intensity was higher in the areas with higher soil thickness.Keywords: subsidence, groundwater, fault, spatial relationship, Jiroft Plain IntroductionThe phenomenon of subsidence is one of the growing and fundamental problems in most human societies, which often occurs as a result of human activities. Improper use of water in agricultural and industrial sectors due to the increasing population growth has led to adverse quantitative and qualitative effects on water resources. Understanding the spatial extent and measuring the amount of subsidence as accurately as possible can be considered as the first step in studying this phenomenon. Therefore, by recognizing the spatial characteristics and temporal behavior of this phenomenon, it is possible to present and develop a regional model of it as well as practical and basic solutions to reduce the damage associated with it and prevent its future trends. The use of radar interferometry method in recent years as an efficient tool for monitoring displacements caused by various phenomena, such as volcanoes, subsidence, earthquakes, and landslides, etc., has been considered by earth scientists. The advantages of this method compared to the previous one include the possibility of calculating displacements with centimeter-level accuracy, providing continuous and extensive spatial coverage, and having the ability to operate it in any weather conditions. So far, various studies have qualitatively identified the relationship between groundwater level declines and occurrence of subsidence. However, few studies have tested this relationship quantitatively. Jiroft Plain has been facing a serious drought crisis and declining groundwater levels in recent years. In fact, changes in the agricultural pattern, reduced rainfall, and occurrence of continuous droughts have led to unplanned and unprincipled use of groundwater resources and decline of groundwater levels in the catchment area of Jiroft Plain and have provided conditions for the occurrence and expansion of land subsidence. Therefore, subsidence monitoring has been proposed as an efficient method for identifying and displaying the regional situations in terms of the risk of land subsidence by planners and managers and made it possible to plan and implement appropriate prevention programs. Therefore, the purpose of this paper was spatial analysis of Jiroft Plain subsidence and evaluation of the effects of uncontrolled groundwater abstraction on land subsidence and fault development. To this end, 73 Sentinel-1 images related to the period of 2014-2021 were processed by using the CPT technique. The darkest areas were related to agricultural areas, which had the least amounts of coherence since their vegetations had not remained constant over time and caused a temporal correlation in the interfering phase. MethodologyThe first step in the CPT processing was production of differential interferometers. Initially, the images were referenced in pairs and the interferometers were selected from the items that had spatial and temporal baselines of less than 100 and 365 m, respectively. Based on this, 72 mapping overlays were generated. Along with the various interferences, the related coherence maps were generated. Coherence is a good estimator of phase quality and is used in the pixel selection phase. Coherence values range from 0 that shows a completely uncorrelated phase or pure noise to 1 that indicates a coherent or noise-free phase. In the second step, differential interferometers were processed to obtain the deformation time series, which included linear and nonlinear components and DEM error. Not all image pixels are suitable for processing due to lacking correlation. Among the various pixel selection criteria, a coherence-based criterion was used. Therefore, all the pixels that had a mean coherence value of less than 0.6 were discarded. Figure 3 shows the coherence map created by the CPT for Jiroft Plain where the brightest areas showed the most coherent areas, which corresponded to barren lands, mountainous lands and highlands, and residential areas because they showed very little change over time. DiscussionFigure 4 shows the magnitude of the shifts that occurred along the satellite's line of sight as a result of Sentinel-1 data processing from April 12, 2014 to September 21, 2021. The total number of pixels calculated from the Sentinel-1 data set by the CPT technique reached 2571. The calculations revealed a high deformation rate with a maximum speed of up to -13 cm per year for satellite visibility in the central and southern parts of Jiroft Plain from 2014 to 2021. The positive values indicated that the surface was rising. Most of these values were located in the mountains around the plain. Motion may be related to tectonic factors and the isostatic process. In contrast, the negative values indicated subsidence, which was mainly concentrated in the central and southern parts of the plain. As can be seen in Figure 4, the displacements in the direction of satellite view of the points varied from +3 to -13 mm. In addition, the results showed the increasing trend of subsidence over time in Jiroft Plain. From 2014 to 2022, the area affected by subsidence had increased from 530 km2 in 2014 to 580 km2 in 2022, showing an expansion from the southern to the northern areas of the plain. In addition to the extent of the subsidence rate, it had increased from 11 cm in 2014 to 13 cm in 2022. ConclusionIn this study, the subsidence phenomenon of Jiroft Plain was investigated and its relationship with various factors was analyzed. The displacements that had occurred and were then obtained from the CPT technique indicated that the study area had undergone progressive subsidence. The subsidence rate in the southern and southeastern parts of the plain had increased from 11 ear to 13 cm per year over an 8-year period. In addition, during this period, the area affected by this phenomenon had increased from 530 to 580 km2 and had been drawn to the northern parts of the plain over time. Investigation of groundwater level changes in Jiroft Plain and its compliance with the subsidence areas showed that improper abstraction from the aquifer had been an important and key factor in creating this phenomenon. In addition, it is worth noting that the areas with the highest subsidence rate corresponded to the areas with the highest soil thickness. Thus, their impacts on the subsidence were investigated due to the enclosure of Jiroft Plain by faults. The results of this study showed that Sabzevaran Fault had controlled subsidence and affected this phenomenon. Finally, the subsidence of Jiroft Plain could be considered as a result of two factors, one was the uncontrolled abstraction of groundwater and the other one was the activity of faults, which could affect each other. This issue had intensified the subsidence phenomenon