The term neural tube defects (NTDs) or spina bifida refers to a diverse group of congenital malformations of the central nervous system that primarily affect the spinal cord and vertebral column.

In the most severe cases, such as myelomeningocele and meningocele, there is a failure of the vertebral column to close, allowing the spinal cord to protrude externally (open defects). Milder forms, such as lipomas or lipomyelomeningocele, present as a soft mass covered by skin, a hairy lumbar patch, or may go unnoticed (closed defects). The most severe defects can be associated with other brain malformations, such as Chiari II malformation.

Causes

The cause of neural tube defects (NTDs) is unknown, but current evidence suggests that genetic predisposition combines with external factors. Some of these factors are recognized (such as valproic acid or methotrexate), but in most cases, they are related to a deficiency or interference in folic acid metabolism.

Prevention

Administration of folic acid to women before conception has reduced the incidence of the malformation.

Prenatal diagnosis

Prenatal diagnosis is usually performed via ultrasound. Since 2011, our hospital has applied an ultrasound-based technique, developed by rehabilitation doctors and obstetricians, that allows prenatal determination of the type and motor level of the fetus with spina bifida. This enables an individualized and reliable prognosis of the child’s motor and functional abilities.

Clinical features

Patients with myelomeningocele:

• Hydrocephalus or increased cerebrospinal fluid (CSF) in the brain
• Reduced muscle strength and sensation in the lower limbs (LL)
• Difficulty walking
• Joint and spinal deformities
• Urinary incontinence (neurogenic bladder)
• Fecal incontinence and constipation (neurogenic bowel)

Patients with lipomas or lipomyelomeningocele:

• Isolated muscle atrophies in one or both LL
• Reduced distal muscle strength and sensation in the LL
• Deformities or malposition of one or both feet
• Urinary incontinence (neurogenic bladder)
• Fecal incontinence and constipation (neurogenic bowel)

Treatment

The treatment of choice for open defects is prenatal surgical closure between 24–26 weeks of gestation, aiming to minimize sequelae from the malformation.

From birth, a child with spina bifida must be monitored in a specialized unit that guarantees their lifelong care and therapeutic needs. The multidisciplinary team should include obstetricians, pediatricians, neurosurgeons, urologists, orthopedic surgeons, pediatric surgeons, rehabilitation doctors, physiotherapists, occupational therapists, nurses, and orthotic technicians.

Treatment must be individualized, as different types of neural tube defects lead to different sequelae.

Basic objectives of NTD treatment:

• Preserve cognitive function (treat hydrocephalus)
• Ensure renal function (diagnose and manage neurogenic bladder)
• Prevent or treat orthopedic deformities
• Achieve independent mobility

The Spina Bifida Unit at our hospital has existed since the 1970s. It is the only unit in the area that can provide continuous care from birth throughout life, with the same team of professionals.

The rehabilitation doctor coordinates the unit, integrating the various therapeutic proposals to ensure they are realistic and achievable. This approach prevents unfeasible recommendations that could cause disappointment for families and suffering for the patient.

Learning is a constant part of human behavior throughout life, but the quantity and quality of knowledge acquired during the first year of life is far greater—or at least comparable—to that acquired over the rest of a lifetime. The human brain increases in weight by one gram per day during the first year, followed by the formation of neuronal connections and networks that enable social smiling at one month of age, recognition of unfamiliar people at seven months, and learning to refuse to release objects around one year of age. In parallel, motor development progresses, allowing children to walk between 12 and 16 months. As development continues, cognitive (learning) and behavioral (approach–avoidance) growth intertwine, along with social interactions with parents and siblings. Many times, it is the parents—and sometimes pediatricians—who first notice that a child seems “different” or shows behaviors that draw attention.

Symptoms

The spectrum of cognitive-behavioral disorders is very broad, as are their symptoms. In general, symptoms include not achieving cognitive or behavioral milestones within the age range considered normal. For example, not exhibiting a social smile by the second month of life or not recognizing strangers by twelve months. Cognitive-behavioral disorders often form part of a broader condition, frequently with a genetic basis that may also affect other organs.

<>Who is affected?

The incidence of cognitive-behavioral disorders is estimated to be between 1% and 3% of all children.

Diagnosis

Parents are often the first to notice atypical signs in development or behavior, sometimes by comparing with siblings. During routine visits, the pediatrician evaluates age-appropriate developmental skills. If further assessment is needed, pediatric neurologists and geneticists can provide a more precise diagnosis. Diagnostic tests for these disorders always include a physical examination, genetic analysis, and laboratory tests that evaluate for metabolic diseases. Neuroimaging studies may also be helpful.

Common treatments

Treatment depends on the cause of the cognitive-behavioral developmental disorder. If the cause is metabolic, effective and sometimes curative treatments may exist. If the cause is genetic, it is possible to predict the course of the condition and recommend supportive educational strategies, although fully effective treatments are not yet available.

The physical examination helps determine whether the child is reaching developmental milestones appropriate for their age.

Genetic tests detect whether there is an alteration in the patient’s genes that could explain the observed anomaly.

Laboratory tests—typically using blood or urine—help confirm or rule out abnormalities in the body’s normal metabolic pathways.

Most common tests

Pediatric neurological examination, imaging studies, metabolic laboratory tests, genetic studies based on sequencing or ultra-sequencing, and evaluation by Child Psychiatry (Pediatric Psychiatry).

Prevention

If there is a family history of cognitive-behavioral disorders, genetic counseling prior to pregnancy may be useful. The neurosensory development of children is a complex process that begins during intrauterine life and continues from the neonatal stage through childhood and adolescence. Adequate monitoring during pregnancy and childbirth is also essential to help prevent these types of disorders.

One in eight women develops breast cancer, with the peak incidence at age 50. It is important to note that only about 5 % of breast cancers are hereditary, and 1 % of men can also be affected.

Localized breast cancer, meaning the tumor is confined to the breast and there are no metastases, has a five-year survival rate of 90 %, meaning that 90 women out of 100 will still be alive five years after being diagnosed with breast cancer. Breast cancer mortality has decreased significantly over the past three decades due to the implementation of mammographic screening and advances in treatments.

Breast cancer is an uncontrolled growth of breast cells resulting from abnormal changes in the genes that regulate cell growth and maintain healthy cells.

Breast cancer often appears without any noticeable changes in the breast and may be detected only through screening mammography. When symptoms do occur, the most common is the presence of a lump in the breast, usually found through self-examination. Less common symptoms include a lump in the armpit, changes in breast size or shape, changes in skin texture or color—such as breast swelling or skin irritation known as “peau d’orange”—local pain, and nipple inversion or discharge.

It is important to note that benign breast conditions can cause these same symptoms, so it is essential to consult a primary care physician or gynecologist to rule out breast cancer.

Diagnosis (Imaging and Histology)

When breast cancer is suspected, a mammogram and ultrasound should be performed, with the latter helping to distinguish whether the lesion is solid or cystic. A core needle biopsy of the lesion is essential to confirm or rule out breast cancer and to provide the necessary information to classify the type of breast cancer.

After confirming a breast cancer diagnosis, in some cases, a staging study is required, which may include a bone scan and a thoracoabdominal CT scan to rule out metastasis to organs such as bone, lung, or liver.

Classification (Biology and Stage)

Breast cancers are classified as ductal or lobular, with ductal being the most common (80%) and originating in the milk ducts.

Based on biological behavior, breast cancers are categorized into subtypes according to the expression of hormone receptors and the HER2 protein. The main groups are:

Luminal (80%, hormone receptor–positive)

HER2-positive (20%, with HER2 expression/amplification)

Triple-negative (20%, lacking hormone receptors and HER2 expression)

According to tumor spread, breast cancer is staged from I to IV, with stage IV being the most advanced. Staging is based on three main variables: T (tumor size), N (degree of axillary lymph node involvement), and M (presence of metastasis).

Treatment

Treatment for early-stage breast cancer, meaning cancer localized to the breast or lymph nodes without organ metastasis, includes a combination of surgery, radiotherapy, chemotherapy, biological therapies, and hormone therapy. The choice of treatment depends on tumor biology and disease stage (TNM classification).

In some cases, when the benefit of chemotherapy for preventing recurrence is uncertain, genomic platforms such as Oncotype DX can be used. This test analyzes 21 genes in the removed tumor tissue and provides a score from 0 to 100, with higher scores indicating tumors that are more likely to benefit from chemotherapy.

Prevention

Lifestyle habits that help reduce the risk of breast cancer include:

• Eating a healthy diet rich in fruits and vegetables
• Engaging in regular physical exercise
• Maintaining a healthy weight
• Avoiding smoking
• Limiting alcohol consumption
• Ensuring adequate vitamin D levels